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<meta name="keywords" content="C0268382, amyloid nephropathy, disease or syndrome, lardaceous kidney, nephropathic amyloidosis, renal amyloidosis, soapy kidney, waxy kidney, 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="A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=120633
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ConceptID=C0268382
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Renal amyloidosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120633</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.">C0268382</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>Amyloid nephropathy; Lardaceous kidney; Nephropathic amyloidosis; Soapy kidney; Waxy kidney</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Nephropathic amyloidosis (48713002); Amyloid nephropathy (48713002); Soapy kidney (48713002); Waxy kidney (48713002); Renal amyloidosis (48713002); Lardaceous kidney (48713002)</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:0001917">HP:0001917</a></td></tr>
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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>
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||
<div class="portlet_content ln">A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). [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 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=C0268382[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=120633">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Renal amyloidosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/78593" ref="tree=MeSH" title="MedGen record for Abnormality of the kidney">Abnormality of the kidney</a></span><ul><li><span class="TLline"><a href="/medgen/1633142" ref="tree=MeSH" title="MedGen record for Abnormal renal morphology">Abnormal renal morphology</a></span><ul><li><span class="matched_ds">Renal amyloidosis</span><ul><li><span class="TLline"><a href="/medgen/1711455" ref="tree=MeSH" title="MedGen record for Renal glomerular amyloid deposition">Renal glomerular amyloid deposition</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 mgSection" id="ID_112">
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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="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_45811"><div><strong>Familial Mediterranean fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45811</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.">C0031069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to kidney failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82799"><div><strong>Familial visceral amyloidosis, Ostertag type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82799</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.">C0268389</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic amyloidosis is a rare protein misfolding and deposition disorder caused by extracellular deposition of amyloid and leading to progressive organ failure. Amyloid is composed of highly organized proteinaceous, insoluble, and degradation-resistant fibrils. Hereditary systemic amyloidosis-2 (AMYLD2), resulting from mutation in the FGA gene, is the most common form of hereditary renal amyloidosis. The kidneys are the major affected organ, presenting with proteinuria. Other less frequently involved organs include liver, heart, autonomic nerve, and, rarely, peripheral nerve. A strong family history of coronary or vascular disease is also frequently seen (summary by Muchtar et al., 2021). The various forms of hereditary systemic amyloidosis that do not have peripheral neuropathy as part of the clinical syndrome have been referred to as 'Ostertag type' in reference to a German family described by Benno Ostertag (1932) in which several members died with renal amyloidosis. Since the form of hereditary amyloidosis caused by mutation in the FGA gene is the most common in Europe and has a clinical presentation with hypertension and proteinuria, Benson (2005) considered it a very good candidate for being the original amyloidosis described by Ostertag. For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120634"><div><strong>Familial amyloid nephropathy with urticaria AND deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120634</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.">C0268390</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341987"><div><strong>Familial Mediterranean fever, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341987</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:">C1851347</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to kidney failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341987">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635231"><div><strong>Familial amyloid polyneuropathy, Iowa type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635231</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.">C4551500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary amyloidosis is an autosomal dominant disorder in which amyloid deposition occurs in various tissues. Hereditary systemic amyloidosis-3 (AMYLD3) is characterized by a wide clinical spectrum including amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Amyloid deposition can also occur in skin, larynx (resulting in hoarseness), and testis (resulting in infertility) (summary by Hamidi Asl et al., 1999, Lachmann et al., 2002). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647324"><div><strong>Familial cold autoinflammatory syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647324</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.">C4551895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.\n\nThe signs and symptoms of CAPS affect multiple body systems. Generally, CAPS are characterized by periodic episodes of skin rash, fever, and joint pain. These episodes can be triggered by exposure to cold temperatures, fatigue, other stressors, or they may arise spontaneously. Episodes can last from a few hours to several days. These episodes typically begin in infancy or early childhood and persist throughout life.\n\nWhile the CAPS spectrum shares similar signs and symptoms, the individual conditions tend to have distinct patterns of features. People with FCAS1 are particularly sensitive to the cold, and exposure to cold temperatures can trigger a painful or burning rash. The rash usually affects the torso and limbs but may spread to the rest of the body. In addition to fever and joint pain, other possible symptoms include muscle aches, chills, drowsiness, eye redness, headache, and nausea.\n\nIn people with NOMID, the signs and symptoms of the condition are usually present from birth and persists throughout life. In addition to skin rash and fever, affected individuals may have joint inflammation, swelling, and joint deformities called contractures that may restrict movement. People with NOMID typically have headaches, seizures, and cognitive impairment resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Other features of NOMID include eye problems, short stature, distinctive facial features, and kidney damage caused by amyloidosis.\n\nIndividuals with MWS develop the typical periodic episodes of skin rash, fever, and joint pain after cold exposure, although episodes may occur spontaneously or all the time. Additionally, they can develop progressive hearing loss in their teenage years. Other features of MWS include skin lesions or kidney damage from abnormal deposits of a protein called amyloid (amyloidosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1859086"><div><strong>Amyloidosis, hereditary systemic 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1859086</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.">C5935572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary systemic amyloidosis-5 (AMYLD5) is a rare amyloidosis that can affect the viscera, with severe involvement when located in the kidneys and liver. Renal dysfunction of varying severity may be the predominant manifestation. Massive hepatic hemorrhage constitutes the other severe visceral involvement. Dermatologic manifestations are rare (summary by Granel et al., 2005). The various forms of hereditary systemic amyloidosis that do not have peripheral neuropathy as part of the clinical syndrome had been referred to as 'Ostertag type' (Benson, 2005). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1859086">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1859086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyloidosis, hereditary systemic 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial amyloid nephropathy with urticaria AND deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial amyloid polyneuropathy, Iowa type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial cold autoinflammatory syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_45811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial Mediterranean fever</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial Mediterranean fever, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial visceral amyloidosis, Ostertag type</a></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/37903671">French protocol for the diagnosis and management of familial Mediterranean fever.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Georgin-Lavialle S,
|
||
Savey L,
|
||
Cuisset L,
|
||
Boursier G,
|
||
Boffa JJ,
|
||
Delplanque M,
|
||
Bourguiba R,
|
||
Monfort JB,
|
||
Touitou I,
|
||
Grateau G;
|
||
Collaborators,
|
||
Kone-Paut I,
|
||
Hentgen V</span><br />
|
||
<span class="medgenPMjournal">Rev Med Interne</span>
|
||
2023 Nov;44(11):602-616.
|
||
Epub 2023 Oct 29
|
||
doi: 10.1016/j.revmed.2023.10.441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37903671" target="_blank">37903671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7254679">Renal amyloidosis and treatment with dimethylsulphoxide (DMSO).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giacchino F,
|
||
Stratta P,
|
||
Aprato A,
|
||
Belardi P,
|
||
Mazzucco G,
|
||
Cirone U,
|
||
De Filippi PG,
|
||
Segoloni G,
|
||
Vercellone A,
|
||
Piccoli G</span><br />
|
||
<span class="medgenPMjournal">Minerva Nefrol</span>
|
||
1980 Oct-Dec;27(4):559-66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7254679" target="_blank">7254679</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6103395">Treatment of renal amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Lancet</span>
|
||
1980 May 17;1(8177):1062-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6103395" target="_blank">6103395</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22renal%20amyloidosis%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 (46)</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/36197414">Renal amyloidosis: a new time for a complete diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feitosa VA,
|
||
Neves PDMM,
|
||
Jorge LB,
|
||
Noronha IL,
|
||
Onuchic LF</span><br />
|
||
<span class="medgenPMjournal">Braz J Med Biol Res</span>
|
||
2022;55:e12284.
|
||
Epub 2022 Oct 3
|
||
doi: 10.1590/1414-431X2022e12284.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36197414" target="_blank">36197414</a><a href="/pmc/articles/PMC9529046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35984109">Diagnosis of renal amyloidosis by liquid chromatography-tandem mass spectrometry: experience from a single-center cohort study in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
|
||
Sun J,
|
||
Tao J,
|
||
Sun W,
|
||
Li X,
|
||
Li M</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2022 Dec 5;135(23):2888-2889.
|
||
doi: 10.1097/CM9.0000000000002155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35984109" target="_blank">35984109</a><a href="/pmc/articles/PMC9945292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34848562">LECT-2 amyloidosis: what do we know?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mann BK,
|
||
Bhandohal JS,
|
||
Cobos E,
|
||
Chitturi C,
|
||
Eppanapally S</span><br />
|
||
<span class="medgenPMjournal">J Investig Med</span>
|
||
2022 Feb;70(2):348-353.
|
||
Epub 2021 Nov 30
|
||
doi: 10.1136/jim-2021-002149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34848562" target="_blank">34848562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32447467">Renal amyloidosis: an update on diagnosis and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N,
|
||
Kaur H,
|
||
Wajid S</span><br />
|
||
<span class="medgenPMjournal">Protoplasma</span>
|
||
2020 Sep;257(5):1259-1276.
|
||
Epub 2020 May 24
|
||
doi: 10.1007/s00709-020-01513-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32447467" target="_blank">32447467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28828707">Pathology and diagnosis of renal non-AL amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethi S,
|
||
Theis JD</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2018 Jun;31(3):343-350.
|
||
Epub 2017 Aug 21
|
||
doi: 10.1007/s40620-017-0426-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28828707" target="_blank">28828707</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20amyloidosis%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 (222)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38245224">Anakinra-associated renal amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasr SH,
|
||
Alehashemi S,
|
||
Dasari S,
|
||
Waldman M,
|
||
Afzali B,
|
||
Chiu A,
|
||
Bolanos J,
|
||
Goldbach-Mansky R,
|
||
McPhail ED</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2024 Feb;105(2):395-396.
|
||
doi: 10.1016/j.kint.2023.08.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38245224" target="_blank">38245224</a><a href="/pmc/articles/PMC10827346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37298536">An Update on Familial Mediterranean Fever.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lancieri M,
|
||
Bustaffa M,
|
||
Palmeri S,
|
||
Prigione I,
|
||
Penco F,
|
||
Papa R,
|
||
Volpi S,
|
||
Caorsi R,
|
||
Gattorno M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 May 31;24(11)
|
||
doi: 10.3390/ijms24119584.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37298536" target="_blank">37298536</a><a href="/pmc/articles/PMC10253709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32447467">Renal amyloidosis: an update on diagnosis and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N,
|
||
Kaur H,
|
||
Wajid S</span><br />
|
||
<span class="medgenPMjournal">Protoplasma</span>
|
||
2020 Sep;257(5):1259-1276.
|
||
Epub 2020 May 24
|
||
doi: 10.1007/s00709-020-01513-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32447467" target="_blank">32447467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27765403">Renal amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kidd J,
|
||
Carl DE</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Cancer</span>
|
||
2016 Sep-Dec;40(5-6):209-219.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1016/j.currproblcancer.2016.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27765403" target="_blank">27765403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25280992">Renal amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jazbeh S,
|
||
Said A,
|
||
Haddad RY,
|
||
Hamad A,
|
||
Lerma EV</span><br />
|
||
<span class="medgenPMjournal">Dis Mon</span>
|
||
2014 Oct;60(10):489-93.
|
||
Epub 2014 Oct 1
|
||
doi: 10.1016/j.disamonth.2014.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25280992" target="_blank">25280992</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20amyloidosis%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 (351)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38245224">Anakinra-associated renal amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasr SH,
|
||
Alehashemi S,
|
||
Dasari S,
|
||
Waldman M,
|
||
Afzali B,
|
||
Chiu A,
|
||
Bolanos J,
|
||
Goldbach-Mansky R,
|
||
McPhail ED</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2024 Feb;105(2):395-396.
|
||
doi: 10.1016/j.kint.2023.08.020.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/37298536">An Update on Familial Mediterranean Fever.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20amyloidosis%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 (176)</a></div><h3 class="subhead">Prognosis</h3>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20amyloidosis%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 (213)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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Letaief A,
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<div class="nl"><a target="_blank" href="/pubmed/29361747">Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yazaki M,
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Yoshinaga T,
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Sekijima Y,
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<span class="bold">PMID: </span><a href="/pubmed/29361747" target="_blank">29361747</a><a href="/pmc/articles/PMC5796263" 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=%22Renal%20amyloidosis%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 (161)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39417966">Clinical manifestations, diagnosis and treatment of hereditary fibrinogen Aα-chain renal amyloidosis: one case report and systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">He L,
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Zhou J,
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Wang M,
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Chen J,
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Liu C,
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Shi J,
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Rui Y,
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Wu H</span><br />
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<span class="medgenPMjournal">Int Urol Nephrol</span>
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2025 Feb;57(2):517-533.
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Epub 2024 Oct 17
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||
doi: 10.1007/s11255-024-04236-w.
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<span class="bold">PMID: </span><a href="/pubmed/39417966" target="_blank">39417966</a><a href="/pmc/articles/PMC11772542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31570305">Amyloidosis secondary to chronic pulmonary aspergillosis: Case report and a systematic review of literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patel D,
|
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Agarwal R,
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Dhooria S,
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Hedge U,
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Patel H,
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Singh Sehgal I</span><br />
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<span class="medgenPMjournal">J Mycol Med</span>
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2019 Dec;29(4):372-374.
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Epub 2019 Sep 12
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||
doi: 10.1016/j.mycmed.2019.100898.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31570305" target="_blank">31570305</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20amyloidosis%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 (2)</a></div></div>
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