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<meta name="keywords" content="C0151747, abnormal function of filtrating structures in kidney, disease of renal tubule, disease or disorder of renal tubule, disease or syndrome, disorder of renal tubule, rare renal tubular disease, renal tubular defect, renal tubular disease, renal tubular disorder, renal tubular dysfunction, renal tubule disease, renal tubule disease or disorder, renal tubule disorder, 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="Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Renal tubular dysfunction (Concept Id: C0151747)
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<!--
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||
UID=57484
|
||
ConceptID=C0151747
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Renal tubular dysfunction</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57484</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:">C0151747</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>Rare renal tubular disease; Renal tubule disorder</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Renal tubular disorder (95568003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000124">HP:0000124</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0021568" target="_blank">MONDO:0021568</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=93603">ORPHA93603</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">Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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></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=C0151747[DISCUI]&test_type=Clinical" ref="ncbi_uid=57484">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=57484" ref="ncbi_uid=57484">V</a></span></span><span class="TLline">Renal tubular dysfunction</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/508816" ref="tree=MeSH" title="MedGen record for Abnormal renal physiology">Abnormal renal physiology</a></span><ul><li><span class="matched_ds">Renal tubular dysfunction</span><ul><li><span class="TLline"><a href="/medgen/869158" ref="tree=MeSH" title="MedGen record for Abnormal renal tubular resorption">Abnormal renal tubular resorption</a></span><ul><li><span class="TLline"><a href="/medgen/870207" ref="tree=MeSH" title="MedGen record for Impaired histidine renal tubular absorption">Impaired histidine renal tubular absorption</a></span></li><li><span class="TLline"><a href="/medgen/395351" ref="tree=MeSH" title="MedGen record for Impaired renal concentrating ability">Impaired renal concentrating ability</a></span></li><li><span class="TLline"><a href="/medgen/1783147" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of bicarbonate">Impaired renal tubular reabsorption of bicarbonate</a></span></li><li><span class="TLline"><a href="/medgen/375869" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of chloride">Impaired renal tubular reabsorption of chloride</a></span></li><li><span class="TLline"><a href="/medgen/1815094" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of glucose">Impaired renal tubular reabsorption of glucose</a></span></li><li><span class="TLline"><a href="/medgen/1815093" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of low molecular weight protein">Impaired renal tubular reabsorption of low molecular weight protein</a></span></li><li><span class="TLline"><a href="/medgen/1778245" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of magnesium">Impaired renal tubular reabsorption of magnesium</a></span></li><li><span class="TLline"><a href="/medgen/1815096" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of phosphate">Impaired renal tubular reabsorption of phosphate</a></span></li><li><span class="TLline"><a href="/medgen/1815095" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of sodium">Impaired renal tubular reabsorption of sodium</a></span></li><li><span class="TLline"><a href="/medgen/1781031" ref="tree=MeSH" title="MedGen record for Impaired renal tubular reabsorption of uric acid">Impaired renal tubular reabsorption of uric acid</a></span></li><li><span class="TLline"><a href="/medgen/368914" ref="tree=MeSH" title="MedGen record for Increased renal tubular phosphate reabsorption">Increased renal tubular phosphate reabsorption</a></span></li><li><span class="TLline"><a href="/medgen/341765" ref="tree=MeSH" title="MedGen record for Renal Fanconi syndrome">Renal Fanconi syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1375627" ref="tree=MeSH" title="MedGen record for Acquired monoclonal Ig light chain-associated Fanconi syndrome">Acquired monoclonal Ig light chain-associated Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830116" ref="tree=MeSH" title="MedGen record for Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome">Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2172" ref="tree=MeSH" title="MedGen record for Bartter syndrome">Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/893350" ref="tree=MeSH" title="MedGen record for Antenatal Bartter syndrome">Antenatal Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/355727" ref="tree=MeSH" title="MedGen record for Bartter disease type 1">Bartter disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/343428" ref="tree=MeSH" title="MedGen record for Bartter disease type 2">Bartter disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/934787" ref="tree=MeSH" title="MedGen record for Bartter disease type 5">Bartter disease type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/335399" ref="tree=MeSH" title="MedGen record for Bartter disease type 3">Bartter disease type 3</a></span></li><li><span class="TLline"><a href="/medgen/355430" ref="tree=MeSH" title="MedGen record for Bartter disease type 4A">Bartter disease type 4A</a></span></li><li><span class="TLline"><a href="/medgen/934772" ref="tree=MeSH" title="MedGen record for Bartter disease type 4B">Bartter disease type 4B</a></span></li><li><span class="TLline"><a href="/medgen/824706" ref="tree=MeSH" title="MedGen record for Bartter syndrome type 4">Bartter syndrome type 4</a></span></li><li><span class="TLline"><a href="/medgen/811594" ref="tree=MeSH" title="MedGen record for Bartter syndrome with hypocalcemia">Bartter syndrome with hypocalcemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/167082" ref="tree=MeSH" title="MedGen record for Cataract-nephropathy-encephalopathy syndrome">Cataract-nephropathy-encephalopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8226" ref="tree=MeSH" title="MedGen record for Cystinuria">Cystinuria</a></span><ul><li><span class="TLline"><a href="/medgen/347441" ref="tree=MeSH" title="MedGen record for Cystinuria type A">Cystinuria type A</a></span></li><li><span class="TLline"><a href="/medgen/347442" ref="tree=MeSH" title="MedGen record for Cystinuria type B">Cystinuria type B</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1680754" ref="tree=MeSH" title="MedGen record for Dominant hypophosphatemia with nephrolithiasis or osteoporosis">Dominant hypophosphatemia with nephrolithiasis or osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/411243" ref="tree=MeSH" title="MedGen record for EAST syndrome">EAST syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843381" ref="tree=MeSH" title="MedGen record for EGF-related primary hypomagnesemia with intellectual disability">EGF-related primary hypomagnesemia with intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/75681" ref="tree=MeSH" title="MedGen record for Familial hypokalemia-hypomagnesemia">Familial hypokalemia-hypomagnesemia</a></span></li><li><span class="TLline"><a href="/medgen/1843047" ref="tree=MeSH" title="MedGen record for Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis">Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis</a></span><ul><li><span class="TLline"><a href="/medgen/120640" ref="tree=MeSH" title="MedGen record for Primary hypomagnesemia">Primary hypomagnesemia</a></span></li><li><span class="TLline"><a href="/medgen/1648449" ref="tree=MeSH" title="MedGen record for Renal hypomagnesemia 5 with ocular involvement">Renal hypomagnesemia 5 with ocular involvement</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1643078" ref="tree=MeSH" title="MedGen record for Familial renal hypouricemia">Familial renal hypouricemia</a></span><ul><li><span class="TLline"><a href="/medgen/141632" ref="tree=MeSH" title="MedGen record for Dalmatian hypouricemia">Dalmatian hypouricemia</a></span></li><li><span class="TLline"><a href="/medgen/436974" ref="tree=MeSH" title="MedGen record for Hypouricemia, renal, 2">Hypouricemia, renal, 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843117" ref="tree=MeSH" title="MedGen record for Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation">Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation</a></span></li><li><span class="TLline"><a href="/medgen/1621482" ref="tree=MeSH" title="MedGen record for HELIX syndrome">HELIX syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1650300" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation">Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation</a></span></li><li><span class="TLline"><a href="/medgen/462559" ref="tree=MeSH" title="MedGen record for Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome">Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1433919" ref="tree=MeSH" title="MedGen record for Idiopathic inherited hypercalciuria">Idiopathic inherited hypercalciuria</a></span></li><li><span class="TLline"><a href="/medgen/355596" ref="tree=MeSH" title="MedGen record for Intestinal hypomagnesemia 1">Intestinal hypomagnesemia 1</a></span></li><li><span class="TLline"><a href="/medgen/930824" ref="tree=MeSH" title="MedGen record for Isolated autosomal dominant hypomagnesemia, Glaudemans type">Isolated autosomal dominant hypomagnesemia, Glaudemans type</a></span></li><li><span class="TLline"><a href="/medgen/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1648057" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 1">Asphyxiating thoracic dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/370804" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 2">Asphyxiating thoracic dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/19860" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 3">Asphyxiating thoracic dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/462535" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 4">Asphyxiating thoracic dystrophy 4</a></span></li><li><span class="TLline"><a href="/medgen/482228" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 5">Asphyxiating thoracic dystrophy 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1674910" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome, hepatocerebrorenal form">Mitochondrial DNA depletion syndrome, hepatocerebrorenal form</a></span></li><li><span class="TLline"><a href="/medgen/57876" ref="tree=MeSH" title="MedGen record for Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus</a></span><ul><li><span class="TLline"><a href="/medgen/289643" ref="tree=MeSH" title="MedGen record for Diabetes insipidus, nephrogenic, autosomal">Diabetes insipidus, nephrogenic, autosomal</a></span></li><li><span class="TLline"><a href="/medgen/288785" ref="tree=MeSH" title="MedGen record for Diabetes insipidus, nephrogenic, X-linked">Diabetes insipidus, nephrogenic, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387791" ref="tree=MeSH" title="MedGen record for Nephrogenic diabetes insipidus-intracranial calcification syndrome">Nephrogenic diabetes insipidus-intracranial calcification syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336877" ref="tree=MeSH" title="MedGen record for Nephrogenic syndrome of inappropriate antidiuresis">Nephrogenic syndrome of inappropriate antidiuresis</a></span></li><li><span class="TLline"><a href="/medgen/1842330" ref="tree=MeSH" title="MedGen record for Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome">Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/326534" ref="tree=MeSH" title="MedGen record for Proximal tubulopathy">Proximal tubulopathy</a></span><ul><li><span class="TLline"><a href="/medgen/868445" ref="tree=MeSH" title="MedGen record for Global proximal tubulopathy">Global proximal tubulopathy</a></span></li><li><span class="TLline"><a href="/medgen/1700527" ref="tree=MeSH" title="MedGen record for Light Chain Proximal Tubulopathy without Crystals">Light Chain Proximal Tubulopathy without Crystals</a></span></li><li><span class="TLline"><a href="/medgen/870722" ref="tree=MeSH" title="MedGen record for Non-acidotic proximal tubulopathy">Non-acidotic proximal tubulopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1621949" ref="tree=MeSH" title="MedGen record for Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome">Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/320542" ref="tree=MeSH" title="MedGen record for Renal hypomagnesemia 2">Renal hypomagnesemia 2</a></span></li><li><span class="TLline"><a href="/medgen/870273" ref="tree=MeSH" title="MedGen record for Renal tubular lysine transport defect">Renal tubular lysine transport defect</a></span></li><li><span class="TLline"><a href="/medgen/930068" ref="tree=MeSH" title="MedGen record for Tubular renal disease-cardiomyopathy syndrome">Tubular renal disease-cardiomyopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334715" ref="tree=MeSH" title="MedGen record for Tubulointerstitial nephritis and uveitis syndrome">Tubulointerstitial nephritis and uveitis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/226893" ref="tree=MeSH" title="MedGen record for Tumor-induced osteomalacia">Tumor-induced osteomalacia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</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.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_196551"><div><strong>Familial X-linked hypophosphatemic vitamin D refractory rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196551</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.">C0733682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually involving the sagittal suture with consequent scaphocephaly. XLH typically manifests in the first two years of life with lower extremity bowing due to the onset of weight-bearing; however, it sometimes does not manifest until adulthood, as previously unevaluated short stature. Adults may present with calcification of the tendons, ligaments, and joint capsules, joint pain, fatigue, insufficiency fractures, and impaired mobility. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported. Rarely, individuals with XLH can suffer from spinal stenosis, Chiari I malformation, syringomyelia, and/or raised intracranial pressure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/196551">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338336"><div><strong>Homozygous 11P15-p14 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338336</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.">C1847866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338336">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_501133"><div><strong>Autosomal recessive hypophosphatemic bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501133</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.">C1853271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/501133">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</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.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766916"><div><strong>Peroxisome biogenesis disorder 12A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766916</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.">C3554002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766916">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1635492"><div><strong>Fanconi renotubular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635492</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.">C4551503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1635492">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1750917"><div><strong>Mitochondrial complex IV deficiency, nuclear type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750917</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.">C5435656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by Tiranti et al., 1998; Tiranti et al., 1999; Teraoka et al., 1999; Poyau et al., 2000) Genetic Heterogeneity of Mitochondrial Complex IV Deficiency Most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare (Shoubridge, 2001; Sacconi et al., 2003). Mitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 (604377), caused by mutation in the SCO2 gene (604272); MC4DN3 (619046), caused by mutation in the COX10 gene (602125); MC4DN4 (619048), caused by mutation in the SCO1 gene (603664); MC4DN5 (220111), caused by mutation in the LRPPRC gene (607544); MC4DN6 (615119), caused by mutation in the COX15 gene (603646); MC4DN7 (619051), caused by mutation in the COX6B1 gene (124089); MC4DN8 (619052), caused by mutation in the TACO1 gene (612958); MC4DN9 (616500), caused by mutation in the COA5 gene (613920); MC4DN10 (619053), caused by mutation in the COX14 gene (614478); MC4DN11 (619054), caused by mutation in the COX20 gene (614698); MC4DN12 (619055), caused by mutation in the PET100 gene (614770); MC4DN13 (616501), caused by mutation in the COA6 gene (614772); MC4DN14 (619058), caused by mutation in the COA3 gene (614775); MC4DN15 (619059), caused by mutation in the COX8A gene (123870); MC4DN16 (619060), caused by mutation in the COX4I1 gene (123864); MC4DN17 (619061), caused by mutation in the APOPT1 gene (616003); MC4DN18 (619062), caused by mutation in the COX6A2 gene (602009); MC4DN19 (619063), caused by mutation in the PET117 gene (614771); MC4DN20 (619064), caused by mutation in the COX5A gene (603773); MC4DN21 (619065), caused by mutation in the COXFA4 gene (603883); MC4DN22 (619355), caused by mutation in the COX16 gene (618064); and MC4DN23 (620275), caused by mutation in the COX11 gene (603648). Mitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 (516030), MTCO2 (516040), MTCO3 (516050), MTTS1 (590080), MTTL1 (590050), and MTTN (590010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1750917">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1799164"><div><strong>Combined oxidative phosphorylation defect type 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799164</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.">C5567741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) is an autosomal recessive multisystemic disorder with highly variable manifestations, even within the same family. Some patients present in infancy with hypotonia and global developmental delay with poor or absent motor skill acquisition and poor growth, whereas others present as young adults with exercise intolerance and muscle weakness. All patients have signs of a peripheral neuropathy, usually demyelinating, with distal muscle weakness and atrophy and distal sensory impairment; many become wheelchair-bound. Additional features include spasticity, extensor plantar responses, contractures, cerebellar signs, seizures, short stature, and rare involvement of other organ systems, including the heart, pancreas, and kidney. Biochemical analysis may show deficiencies in mitochondrial respiratory complex enzyme activities in patient tissue, although this is not always apparent. Lactate is frequently increased, suggesting mitochondrial dysfunction (Powell et al., 2015; Argente-Escrig et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1799164">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive hypophosphatemic bone disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 26</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_196551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Homozygous 11P15-p14 deletion syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex IV deficiency, nuclear type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 12A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</a></div></span></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/38365697">Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du T,
|
||
Xia Y,
|
||
Sun C,
|
||
Gong Z,
|
||
Liang L,
|
||
Gong Z,
|
||
Wang R,
|
||
Lu D,
|
||
Zhang K,
|
||
Yang Y,
|
||
Sun Y,
|
||
Sun M,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Feb 16;19(1):75.
|
||
doi: 10.1186/s13023-024-03070-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38365697" target="_blank">38365697</a><a href="/pmc/articles/PMC10874070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34704422">Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang Y,
|
||
Kong Y</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2021 Aug 25;50(4):514-523.
|
||
doi: 10.3724/zdxbyxb-2021-0255.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34704422" target="_blank">34704422</a><a href="/pmc/articles/PMC8777462" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25845505">Acute kidney injury in severe sepsis: pathophysiology, diagnosis, and treatment recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keir I,
|
||
Kellum JA</span><br />
|
||
<span class="medgenPMjournal">J Vet Emerg Crit Care (San Antonio)</span>
|
||
2015 Mar-Apr;25(2):200-9.
|
||
doi: 10.1111/vec.12297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25845505" target="_blank">25845505</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22renal%20tubular%20dysfunction%22%5Btiab%3A~0%5D)%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 (12)</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/34872508">β-Thalassemia minor & renal tubular dysfunction: is there any association?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadeghi MV,
|
||
Mirghorbani M,
|
||
Akbari R</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2021 Dec 7;22(1):404.
|
||
doi: 10.1186/s12882-021-02602-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34872508" target="_blank">34872508</a><a href="/pmc/articles/PMC8650370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755194">Hereditary Tyrosinemia Type 1 in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aktuglu-Zeybek AC,
|
||
Kiykim E,
|
||
Cansever MS</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:157-172.
|
||
doi: 10.1007/978-3-319-55780-9_15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755194" target="_blank">28755194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16494511">Current strategies for the treatment of hereditary tyrosinemia type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashorn M,
|
||
Pitkänen S,
|
||
Salo MK,
|
||
Heikinheimo M</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2006;8(1):47-54.
|
||
doi: 10.2165/00148581-200608010-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16494511" target="_blank">16494511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11498177">Renal tubular dysfunction following kidney transplantation: a prospective study in 31 children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanjad SA,
|
||
Ibrahim A,
|
||
Al Shorafa S,
|
||
Al Abbad A,
|
||
Khauli RB,
|
||
Shaibani KA,
|
||
Al Sabban E</span><br />
|
||
<span class="medgenPMjournal">Transplant Proc</span>
|
||
2001 Aug;33(5):2830-1.
|
||
doi: 10.1016/s0041-1345(01)02208-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11498177" target="_blank">11498177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9854717">First report of prenatal biochemical diagnosis of Lowe syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suchy SF,
|
||
Lin T,
|
||
Horwitz JA,
|
||
O'Brien WE,
|
||
Nussbaum RL</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1998 Nov;18(11):1117-21.
|
||
doi: 10.1002/(sici)1097-0223(199811)18:11<1117::aid-pd413>3.0.co;2-q.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9854717" target="_blank">9854717</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20dysfunction%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 (238)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38044149">Proximal Renal Tubular Dysfunction Induces Severe Hypocalcemia in the Elderly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uzu T</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2024 Jul 15;63(14):1975-1976.
|
||
Epub 2023 Dec 4
|
||
doi: 10.2169/internalmedicine.3077-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38044149" target="_blank">38044149</a><a href="/pmc/articles/PMC11309865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29624233">ARC syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu M,
|
||
Aslan Y,
|
||
Aktürk-Acar F,
|
||
Çakır M,
|
||
Erduran E,
|
||
Kalyoncu M</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2017;59(4):487-490.
|
||
doi: 10.24953/turkjped.2017.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29624233" target="_blank">29624233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755187">NTBC and Correction of Renal Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maiorana A,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:93-100.
|
||
doi: 10.1007/978-3-319-55780-9_8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755187" target="_blank">28755187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25845505">Acute kidney injury in severe sepsis: pathophysiology, diagnosis, and treatment recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keir I,
|
||
Kellum JA</span><br />
|
||
<span class="medgenPMjournal">J Vet Emerg Crit Care (San Antonio)</span>
|
||
2015 Mar-Apr;25(2):200-9.
|
||
doi: 10.1111/vec.12297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25845505" target="_blank">25845505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17413201">Fanconi-Bickel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karande S,
|
||
Kumbhare N,
|
||
Kulkarni M</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2007 Mar;44(3):223-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17413201" target="_blank">17413201</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20dysfunction%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 (227)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755194">Hereditary Tyrosinemia Type 1 in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aktuglu-Zeybek AC,
|
||
Kiykim E,
|
||
Cansever MS</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:157-172.
|
||
doi: 10.1007/978-3-319-55780-9_15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755194" target="_blank">28755194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755187">NTBC and Correction of Renal Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maiorana A,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:93-100.
|
||
doi: 10.1007/978-3-319-55780-9_8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755187" target="_blank">28755187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25845505">Acute kidney injury in severe sepsis: pathophysiology, diagnosis, and treatment recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keir I,
|
||
Kellum JA</span><br />
|
||
<span class="medgenPMjournal">J Vet Emerg Crit Care (San Antonio)</span>
|
||
2015 Mar-Apr;25(2):200-9.
|
||
doi: 10.1111/vec.12297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25845505" target="_blank">25845505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22614445">Renal tubular dysfunction and lactic acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim S,
|
||
Curtin J,
|
||
Fleming J,
|
||
Lewis D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2012 Dec;27(12):2213-6.
|
||
Epub 2012 May 22
|
||
doi: 10.1007/s00467-012-2166-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22614445" target="_blank">22614445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11498177">Renal tubular dysfunction following kidney transplantation: a prospective study in 31 children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanjad SA,
|
||
Ibrahim A,
|
||
Al Shorafa S,
|
||
Al Abbad A,
|
||
Khauli RB,
|
||
Shaibani KA,
|
||
Al Sabban E</span><br />
|
||
<span class="medgenPMjournal">Transplant Proc</span>
|
||
2001 Aug;33(5):2830-1.
|
||
doi: 10.1016/s0041-1345(01)02208-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11498177" target="_blank">11498177</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20dysfunction%22%20AND%20Therapy%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 (263)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38731973">Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teschke R,
|
||
Eickhoff A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 26;25(9)
|
||
doi: 10.3390/ijms25094753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38731973" target="_blank">38731973</a><a href="/pmc/articles/PMC11084815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34177803">Current Challenges and Future Perspectives of Renal Tubular Dysfunction in Diabetic Kidney Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duan S,
|
||
Lu F,
|
||
Song D,
|
||
Zhang C,
|
||
Zhang B,
|
||
Xing C,
|
||
Yuan Y</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:661185.
|
||
Epub 2021 Jun 10
|
||
doi: 10.3389/fendo.2021.661185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34177803" target="_blank">34177803</a><a href="/pmc/articles/PMC8223745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29624233">ARC syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu M,
|
||
Aslan Y,
|
||
Aktürk-Acar F,
|
||
Çakır M,
|
||
Erduran E,
|
||
Kalyoncu M</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2017;59(4):487-490.
|
||
doi: 10.24953/turkjped.2017.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29624233" target="_blank">29624233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755194">Hereditary Tyrosinemia Type 1 in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aktuglu-Zeybek AC,
|
||
Kiykim E,
|
||
Cansever MS</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:157-172.
|
||
doi: 10.1007/978-3-319-55780-9_15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755194" target="_blank">28755194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755187">NTBC and Correction of Renal Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maiorana A,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:93-100.
|
||
doi: 10.1007/978-3-319-55780-9_8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755187" target="_blank">28755187</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20dysfunction%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 (125)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38731973">Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teschke R,
|
||
Eickhoff A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 26;25(9)
|
||
doi: 10.3390/ijms25094753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38731973" target="_blank">38731973</a><a href="/pmc/articles/PMC11084815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181909">Renal tubular dysfunction and cancer mortality in the Japanese general population living in cadmium-non-contaminated areas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nogawa K,
|
||
Watanabe Y,
|
||
Sakuma S,
|
||
Sakurai M,
|
||
Nishijo M,
|
||
Ishizaki M,
|
||
Morikawa Y,
|
||
Kido T,
|
||
Nakagawa H,
|
||
Suwazono Y</span><br />
|
||
<span class="medgenPMjournal">J Appl Toxicol</span>
|
||
2022 Sep;42(9):1458-1466.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/jat.4304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181909" target="_blank">35181909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21111992">Renal diseases and the liver.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong F</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2011 Feb;15(1):39-53.
|
||
doi: 10.1016/j.cld.2010.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21111992" target="_blank">21111992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7023808">Lack of nephrotoxicity of intravenous dimethylsulfoxide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bennett WM,
|
||
Muther RS</span><br />
|
||
<span class="medgenPMjournal">Clin Toxicol</span>
|
||
1981 May;18(5):615-8.
|
||
doi: 10.3109/15563658108990287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7023808" target="_blank">7023808</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7426480">Cadmium-induced osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blainey JD,
|
||
Adams RG,
|
||
Brewer DB,
|
||
Harvey TC</span><br />
|
||
<span class="medgenPMjournal">Br J Ind Med</span>
|
||
1980 Aug;37(3):278-84.
|
||
doi: 10.1136/oem.37.3.278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7426480" target="_blank">7426480</a><a href="/pmc/articles/PMC1008708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20dysfunction%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 (165)</a></div></div>
|
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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=C0151747%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
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