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<meta name="keywords" content="C2674705, carnevale canun mendoza syndrome, disease or syndrome, idiopathic multicentric osteolysis with or without nephropathy, mafb, mcto, multicentric carpo-tarsal osteolysis with or without nephropathy, multicentric carpotarsal osteolysis syndrome, multicentric osteolysis nephropathy, multicentric osteolysis of carpal bones and nephropathy, multicentric osteolysis, autosomal dominant, osteolysis, hereditary, of carpal bones with or without nephropathy, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=436237
|
||
ConceptID=C2674705
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multicentric carpo-tarsal osteolysis with or without nephropathy<span class="h1sub">(MCTO)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436237</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2674705</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Carnevale Canun Mendoza syndrome; MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Multicentric osteolysis nephropathy; Multicentric Osteolysis of Carpal Bones and Nephropathy; MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT; OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Multicentric carpotarsal osteolysis syndrome (766992008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MAFB - ID: 9935 - NCBI Gene" href="/gene/9935" class="medgenPMinfo">MAFB</a> (20q12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008152" target="_blank">MONDO:0008152</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/166300" target="_blank">166300</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2774">ORPHA2774</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66384"><div><strong>Wrist pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66384</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66384">Feature record</a> | <a href="/medgen?term=%22Wrist%20pain%22%5BClinical%20Features%5D%20OR%2066384%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116068"><div><strong>Ankle pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116068</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116068">Feature record</a> | <a href="/medgen?term=%22Ankle%20pain%22%5BClinical%20Features%5D%20OR%20116068%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868441"><div><strong>Bilateral renal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868441</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A two-sided form of atrophy of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868441">Feature record</a> | <a href="/medgen?term=%22Bilateral%20renal%20atrophy%22%5BClinical%20Features%5D%20OR%20868441%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65906"><div><strong>Ankle swelling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65906</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65906">Feature record</a> | <a href="/medgen?term=%22Ankle%20swelling%22%5BClinical%20Features%5D%20OR%2065906%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66031"><div><strong>Ulnar deviation of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66031</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66031">Feature record</a> | <a href="/medgen?term=%22Ulnar%20deviation%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%2066031%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116125"><div><strong>Wrist swelling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116125</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241760</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116125">Feature record</a> | <a href="/medgen?term=%22Wrist%20swelling%22%5BClinical%20Features%5D%20OR%20116125%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_318954"><div><strong>Carpal osteolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318954</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteolysis affecting carpal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318954">Feature record</a> | <a href="/medgen?term=%22Carpal%20osteolysis%22%5BClinical%20Features%5D%20OR%20318954%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322262"><div><strong>Osteolysis involving tarsal bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322262</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322262">Feature record</a> | <a href="/medgen?term=%22Osteolysis%20involving%20tarsal%20bones%22%5BClinical%20Features%5D%20OR%20322262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343165"><div><strong>Metacarpal osteolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343165</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343165">Feature record</a> | <a href="/medgen?term=%22Metacarpal%20osteolysis%22%5BClinical%20Features%5D%20OR%20343165%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344327"><div><strong>Metatarsal osteolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344327</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteolysis involving metatarsal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344327">Feature record</a> | <a href="/medgen?term=%22Metatarsal%20osteolysis%22%5BClinical%20Features%5D%20OR%20344327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892857"><div><strong>Ulnar deviation of the hand or of fingers of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892857</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4048199</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892857">Feature record</a> | <a href="/medgen?term=%22Ulnar%20deviation%20of%20the%20hand%20or%20of%20fingers%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%20892857%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68625"><div><strong>Congenital diaphragmatic hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68625</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235833</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a hernia of the diaphragm present at birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68625">Feature record</a> | <a href="/medgen?term=%22Congenital%20diaphragmatic%20hernia%22%5BClinical%20Features%5D%20OR%2068625%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66804"><div><strong>Hypoplasia of the maxilla</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66804</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66804">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20maxilla%22%5BClinical%20Features%5D%20OR%2066804%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480059"><div><strong>Bilateral elbow dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480059</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3278429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480059">Feature record</a> | <a href="/medgen?term=%22Bilateral%20elbow%20dislocations%22%5BClinical%20Features%5D%20OR%20480059%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324383"><div><strong>Triangular face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324383</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324383">Feature record</a> | <a href="/medgen?term=%22Triangular%20face%22%5BClinical%20Features%5D%20OR%20324383%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40485"><div><strong>Corneal opacity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40485</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of corneal clarity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40485">Feature record</a> | <a href="/medgen?term=%22Corneal%20opacity%22%5BClinical%20Features%5D%20OR%2040485%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41917"><div><strong>Proptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is protruding anterior to the plane of the face to a greater extent than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41917">Feature record</a> | <a href="/medgen?term=%22Proptosis%22%5BClinical%20Features%5D%20OR%2041917%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triangular face</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankle swelling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carpal osteolysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metacarpal osteolysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metatarsal osteolysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteolysis involving tarsal bones</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar deviation of the hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar deviation of the hand or of fingers of the hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wrist swelling</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal opacity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral renal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral elbow dislocations</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital diaphragmatic hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the maxilla</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankle pain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66384" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wrist pain</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2674705[DISCUI]&test_type=Clinical" ref="ncbi_uid=436237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436237" target="_blank" href="/omim/166300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436237" ref="ncbi_uid=436237">V</a></span></span><span class="TLline">Multicentric carpo-tarsal osteolysis with or without nephropathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843089" ref="tree=MeSH" title="MedGen record for Primary osteolysis">Primary osteolysis</a></span><ul><li><span class="matched_ds">Multicentric carpo-tarsal osteolysis with or without nephropathy</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2524&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Multicentric carpo-tarsal osteolysis with or without nephropathy</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38490803">KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2024 Apr;105(4S):S117-S314.
|
||
doi: 10.1016/j.kint.2023.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38490803" target="_blank">38490803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34556256">KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kidney Disease: Improving Global Outcomes (KDIGO) Glomerular Diseases Work Group</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2021 Oct;100(4S):S1-S276.
|
||
doi: 10.1016/j.kint.2021.05.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34556256" target="_blank">34556256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25439696">International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajkumar SV,
|
||
Dimopoulos MA,
|
||
Palumbo A,
|
||
Blade J,
|
||
Merlini G,
|
||
Mateos MV,
|
||
Kumar S,
|
||
Hillengass J,
|
||
Kastritis E,
|
||
Richardson P,
|
||
Landgren O,
|
||
Paiva B,
|
||
Dispenzieri A,
|
||
Weiss B,
|
||
LeLeu X,
|
||
Zweegman S,
|
||
Lonial S,
|
||
Rosinol L,
|
||
Zamagni E,
|
||
Jagannath S,
|
||
Sezer O,
|
||
Kristinsson SY,
|
||
Caers J,
|
||
Usmani SZ,
|
||
Lahuerta JJ,
|
||
Johnsen HE,
|
||
Beksac M,
|
||
Cavo M,
|
||
Goldschmidt H,
|
||
Terpos E,
|
||
Kyle RA,
|
||
Anderson KC,
|
||
Durie BG,
|
||
Miguel JF</span><br />
|
||
<span class="medgenPMjournal">Lancet Oncol</span>
|
||
2014 Nov;15(12):e538-48.
|
||
Epub 2014 Oct 26
|
||
doi: 10.1016/S1470-2045(14)70442-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25439696" target="_blank">25439696</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(multicentric%20carpo-tarsal%20osteolysis%20with%20or%20without%20nephropathy)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (26041)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32616495">APOL1 Nephropathy: From Genetics to Clinical Applications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman DJ,
|
||
Pollak MR</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2021 Feb 8;16(2):294-303.
|
||
Epub 2020 Jul 2
|
||
doi: 10.2215/CJN.15161219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32616495" target="_blank">32616495</a><a href="/pmc/articles/PMC7863644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32890604">Advances in the pathogenesis and prevention of contrast-induced nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang F,
|
||
Lu Z,
|
||
Wang F</span><br />
|
||
<span class="medgenPMjournal">Life Sci</span>
|
||
2020 Oct 15;259:118379.
|
||
Epub 2020 Sep 3
|
||
doi: 10.1016/j.lfs.2020.118379.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32890604" target="_blank">32890604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31636087">Proteomics and Metabolomics in Kidney Disease, including Insights into Etiology, Treatment, and Prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dubin RF,
|
||
Rhee EP</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2020 Mar 6;15(3):404-411.
|
||
Epub 2019 Oct 21
|
||
doi: 10.2215/CJN.07420619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31636087" target="_blank">31636087</a><a href="/pmc/articles/PMC7057308" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26568188">Renal involvement in primary Sjögren syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">François H,
|
||
Mariette X</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2016 Feb;12(2):82-93.
|
||
Epub 2015 Nov 16
|
||
doi: 10.1038/nrneph.2015.174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26568188" target="_blank">26568188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26676664">Diabetic Nephropathy: New Risk Factors and Improvements in Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tziomalos K,
|
||
Athyros VG</span><br />
|
||
<span class="medgenPMjournal">Rev Diabet Stud</span>
|
||
2015 Spring-Summer;12(1-2):110-8.
|
||
Epub 2015 Aug 10
|
||
doi: 10.1900/RDS.2015.12.110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26676664" target="_blank">26676664</a><a href="/pmc/articles/PMC5397986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multicentric%20carpo-tarsal%20osteolysis%20with%20or%20without%20nephropathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (195827)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37400792">Single-cell RNA sequencing for the study of kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu J,
|
||
Lu J,
|
||
Weng H</span><br />
|
||
<span class="medgenPMjournal">Mol Med</span>
|
||
2023 Jul 3;29(1):85.
|
||
doi: 10.1186/s10020-023-00693-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37400792" target="_blank">37400792</a><a href="/pmc/articles/PMC10318824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28316995">Classification and Differential Diagnosis of Diabetic Nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qi C,
|
||
Mao X,
|
||
Zhang Z,
|
||
Wu H</span><br />
|
||
<span class="medgenPMjournal">J Diabetes Res</span>
|
||
2017;2017:8637138.
|
||
Epub 2017 Feb 20
|
||
doi: 10.1155/2017/8637138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28316995" target="_blank">28316995</a><a href="/pmc/articles/PMC5337846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26676664">Diabetic Nephropathy: New Risk Factors and Improvements in Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tziomalos K,
|
||
Athyros VG</span><br />
|
||
<span class="medgenPMjournal">Rev Diabet Stud</span>
|
||
2015 Spring-Summer;12(1-2):110-8.
|
||
Epub 2015 Aug 10
|
||
doi: 10.1900/RDS.2015.12.110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26676664" target="_blank">26676664</a><a href="/pmc/articles/PMC5397986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25282510">Sickle cell nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gargiulo R,
|
||
Pandya M,
|
||
Seba A,
|
||
Haddad RY,
|
||
Lerma EV</span><br />
|
||
<span class="medgenPMjournal">Dis Mon</span>
|
||
2014 Oct;60(10):494-9.
|
||
Epub 2014 Oct 3
|
||
doi: 10.1016/j.disamonth.2014.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25282510" target="_blank">25282510</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21462608">Clinical presentation & management of glomerular diseases: hematuria, nephritic & nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna R</span><br />
|
||
<span class="medgenPMjournal">Mo Med</span>
|
||
2011 Jan-Feb;108(1):33-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21462608" target="_blank">21462608</a><a href="/pmc/articles/PMC6188440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multicentric%20carpo-tarsal%20osteolysis%20with%20or%20without%20nephropathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (145768)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38515121">Sepsis-associated acute kidney injury: recent advances in enrichment strategies, sub-phenotyping and clinical trials.</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/33432181">Defining cisplatin eligibility in patients with muscle-invasive bladder cancer.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17978811">Confounding: what it is and how to deal with it.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31636087">Proteomics and Metabolomics in Kidney Disease, including Insights into Etiology, Treatment, and Prevention.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dubin RF,
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<div class="nl"><a target="_blank" href="/pubmed/31272470">Mortality after osteoporotic hip fracture: incidence, trends, and associated factors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guzon-Illescas O,
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Perez Fernandez E,
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Crespí Villarias N,
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Quirós Donate FJ,
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2019 Jul 4;14(1):203.
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<span class="bold">PMID: </span><a href="/pubmed/31272470" target="_blank">31272470</a><a href="/pmc/articles/PMC6610901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29932411">Contrast-associated nephropathy: Does the route of administration matter?
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<div class="portlet_content ln"><span class="medgenPMauthor">Mao C,
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Chacko B</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/28316995">Classification and Differential Diagnosis of Diabetic Nephropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Qi C,
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Mao X,
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Zhang Z,
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Wu H</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/28316995" target="_blank">28316995</a><a href="/pmc/articles/PMC5337846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multicentric%20carpo-tarsal%20osteolysis%20with%20or%20without%20nephropathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (120431)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39498911">Genomics Vision In Nephrology and Transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hafez MH</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/39498911" target="_blank">39498911</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32393465">Kidney Disease, Race, and GFR Estimation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Levey AS,
|
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Titan SM,
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Powe NR,
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Coresh J,
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Inker LA</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
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Epub 2020 May 11
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doi: 10.2215/CJN.12791019.
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<span class="bold">PMID: </span><a href="/pubmed/32393465" target="_blank">32393465</a><a href="/pmc/articles/PMC7409747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31636087">Proteomics and Metabolomics in Kidney Disease, including Insights into Etiology, Treatment, and Prevention.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dubin RF,
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Rhee EP</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
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2020 Mar 6;15(3):404-411.
|
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Epub 2019 Oct 21
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doi: 10.2215/CJN.07420619.
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<span class="bold">PMID: </span><a href="/pubmed/31636087" target="_blank">31636087</a><a href="/pmc/articles/PMC7057308" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/29477241">Point-of-care ultrasound in the practice of nephrology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Niyyar VD,
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O'Neill WC</span><br />
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<span class="medgenPMjournal">Kidney Int</span>
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2018 May;93(5):1052-1059.
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Epub 2018 Feb 22
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doi: 10.1016/j.kint.2017.11.032.
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<span class="bold">PMID: </span><a href="/pubmed/29477241" target="_blank">29477241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28316995">Classification and Differential Diagnosis of Diabetic Nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qi C,
|
||
Mao X,
|
||
Zhang Z,
|
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Wu H</span><br />
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<span class="medgenPMjournal">J Diabetes Res</span>
|
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2017;2017:8637138.
|
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Epub 2017 Feb 20
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doi: 10.1155/2017/8637138.
|
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<span class="bold">PMID: </span><a href="/pubmed/28316995" target="_blank">28316995</a><a href="/pmc/articles/PMC5337846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multicentric%20carpo-tarsal%20osteolysis%20with%20or%20without%20nephropathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (116785)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/32918941">Cystinuria: clinical practice recommendation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Servais A,
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Thomas K,
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Dello Strologo L,
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Sayer JA,
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Bekri S,
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Bertholet-Thomas A,
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Bultitude M,
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Capolongo G,
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Cerkauskiene R,
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Daudon M,
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Doizi S,
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Gillion V,
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Gràcia-Garcia S,
|
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Halbritter J,
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Heidet L,
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van den Heijkant M,
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Lemoine S,
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Knebelmann B,
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Emma F,
|
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Levtchenko E;
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Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN</span><br />
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<span class="medgenPMjournal">Kidney Int</span>
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2021 Jan;99(1):48-58.
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Epub 2020 Sep 9
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doi: 10.1016/j.kint.2020.06.035.
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<span class="bold">PMID: </span><a href="/pubmed/32918941" target="_blank">32918941</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33060160">Systematic Review and Meta-Analysis of Native Kidney Biopsy Complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poggio ED,
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McClelland RL,
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Blank KN,
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Hansen S,
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Bansal S,
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Bomback AS,
|
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Canetta PA,
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Khairallah P,
|
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Kiryluk K,
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Lecker SH,
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McMahon GM,
|
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Palevsky PM,
|
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Parikh S,
|
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Rosas SE,
|
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Tuttle K,
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Vazquez MA,
|
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Vijayan A,
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Rovin BH;
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||
Kidney Precision Medicine Project</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2020 Nov 6;15(11):1595-1602.
|
||
Epub 2020 Oct 15
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||
doi: 10.2215/CJN.04710420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33060160" target="_blank">33060160</a><a href="/pmc/articles/PMC7646247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32961953">Osteoporosis in Patients with Chronic Kidney Diseases: A Systemic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsu CY,
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||
Chen LR,
|
||
Chen KH</span><br />
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||
<span class="medgenPMjournal">Int J Mol Sci</span>
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2020 Sep 18;21(18)
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||
doi: 10.3390/ijms21186846.
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||
<span class="bold">PMID: </span><a href="/pubmed/32961953" target="_blank">32961953</a><a href="/pmc/articles/PMC7555655" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31375416">Effects of Creatine Supplementation on Renal Function: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Souza E Silva A,
|
||
Pertille A,
|
||
Reis Barbosa CG,
|
||
Aparecida de Oliveira Silva J,
|
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de Jesus DV,
|
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Ribeiro AGSV,
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Baganha RJ,
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de Oliveira JJ</span><br />
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<span class="medgenPMjournal">J Ren Nutr</span>
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2019 Nov;29(6):480-489.
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||
Epub 2019 Jul 30
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doi: 10.1053/j.jrn.2019.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31375416" target="_blank">31375416</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/27941129">Update of EULAR recommendations for the treatment of systemic sclerosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kowal-Bielecka O,
|
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Fransen J,
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Avouac J,
|
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Becker M,
|
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Kulak A,
|
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Allanore Y,
|
||
Distler O,
|
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Clements P,
|
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Cutolo M,
|
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Czirjak L,
|
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Damjanov N,
|
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Del Galdo F,
|
||
Denton CP,
|
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Distler JHW,
|
||
Foeldvari I,
|
||
Figelstone K,
|
||
Frerix M,
|
||
Furst DE,
|
||
Guiducci S,
|
||
Hunzelmann N,
|
||
Khanna D,
|
||
Matucci-Cerinic M,
|
||
Herrick AL,
|
||
van den Hoogen F,
|
||
van Laar JM,
|
||
Riemekasten G,
|
||
Silver R,
|
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Smith V,
|
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Sulli A,
|
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Tarner I,
|
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Tyndall A,
|
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Welling J,
|
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Wigley F,
|
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Valentini G,
|
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Walker UA,
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Zulian F,
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Müller-Ladner U;
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EUSTAR Coauthors</span><br />
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|
||
<span class="bold">PMID: </span><a href="/pubmed/27941129" target="_blank">27941129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multicentric%20carpo-tarsal%20osteolysis%20with%20or%20without%20nephropathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6093)</a></div></div>
|
||
</div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2674705%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C2674705%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C2674705%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2674705%5bDISCUI%5d" target="_blank">See all (16)</a></total></li>
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