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<meta name="keywords" content="C4316899, cystine diatheses, cystine diathesis, cystine disease, cystine diseases, cystine storage disease, cystine storage diseases, cystinoses, cystinosin, defect of, cystinosis, defect of cystinosin, diatheses, cystine, diathesis, cystine, disease or syndrome, lysosomal cystine transport protein, defect of, protein defect of cystin transport, storage disease, cystine, storage diseases, cystine, 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="Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1384792
|
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ConceptID=C4316899
|
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-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1400/bin/ctns-Image001.gif" src-large="/books/NBK1400/bin/ctns-Image001.jpg" /></a><br /><a href="/books/NBK1400/figure/ctns.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1400/bin/ctns-Image002.gif" src-large="/books/NBK1400/bin/ctns-Image002.jpg" /></a><br /><a href="/books/NBK1400/figure/ctns.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Cystinosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1384792</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.">C4316899</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>Cystine diathesis; Cystine disease; Cystine storage disease; Cystinoses</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cystinosis (190681003); Cystine disease (190681003); Cystine storage disease (190681003); Cystine diathesis (190681003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/1497">CTNS</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016239" target="_blank">MONDO:0016239</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/219800" target="_blank">219800</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=213">ORPHA213</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1400" target="_blank">Cystinosis</a></div><div>Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1400#ctns.Summary" target="NBK1400">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.GeneReview_Scope" target="NBK1400">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Diagnosis" target="NBK1400">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Clinical_Characteristics" target="NBK1400">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Genetically_Related_Allelic_Disorde" target="NBK1400">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Differential_Diagnosis" target="NBK1400">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Management" target="NBK1400">Management</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Genetic_Counseling" target="NBK1400">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Resources" target="NBK1400">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Molecular_Genetics" target="NBK1400">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Chapter_Notes" target="NBK1400">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.References" target="NBK1400">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Galina Nesterova | William A Gahl <a href="/books/NBK1400" target="NBK1400" title="NCBI Bookshelf: Cystinosis">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.<br /><br />There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.<br /><br />Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.<br /><br />The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age. Intermediate cystinosis typically becomes apparent in affected individuals in adolescence. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid-twenties.<br /><br />People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea, but usually do not develop kidney malfunction or most of the other signs and symptoms of cystinosis. Due to the absence of severe symptoms, the age at which this form of cystinosis is diagnosed varies widely. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cystinosis">https://medlineplus.gov/genetics/condition/cystinosis</a></div></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C4316899[DISCUI]&test_type=Clinical" ref="ncbi_uid=1384792">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1384792" target="_blank" href="/omim/219800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=1384792">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1384792" ref="ncbi_uid=1384792">V</a></span></span><span class="TLline">Cystinosis</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931187[DISCUI]&test_type=Clinical" ref="ncbi_uid=419735">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419735" target="_blank" href="/omim/219800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=419735">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419735" ref="ncbi_uid=419735">V</a></span></span><span class="TLline"><a href="/medgen/419735" ref="tree=GTR&ncbi_uid=419735&link_uid=419735" title="View MedGen record for 'Nephropathic cystinosis'">Nephropathic cystinosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3537440[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=760976">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=760976" target="_blank" href="/omim/219800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=760976" ref="ncbi_uid=760976">V</a></span></span><span class="TLline"><a href="/medgen/760976" ref="tree=GTR&ncbi_uid=760976&link_uid=760976" title="View MedGen record for 'Infantile nephropathic cystinosis'">Infantile nephropathic cystinosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268626[DISCUI]&test_type=Clinical" ref="ncbi_uid=75701">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75701" target="_blank" href="/omim/219900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=75701">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75701" ref="ncbi_uid=75701">V</a></span></span><span class="TLline"><a href="/medgen/75701" ref="tree=GTR&ncbi_uid=75701&link_uid=75701" title="View MedGen record for 'Juvenile nephropathic cystinosis'">Juvenile nephropathic cystinosis</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931013[DISCUI]&test_type=Clinical" ref="ncbi_uid=419313">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419313" target="_blank" href="/omim/219750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=419313">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419313" ref="ncbi_uid=419313">V</a></span></span><span class="TLline"><a href="/medgen/419313" ref="tree=GTR&ncbi_uid=419313&link_uid=419313" title="View MedGen record for 'Ocular cystinosis'">Ocular cystinosis</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="matched_ds">Cystinosis</span><ul><li><span class="TLline"><a href="/medgen/760976" ref="tree=MeSH" title="MedGen record for Infantile nephropathic cystinosis">Infantile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/75701" ref="tree=MeSH" title="MedGen record for Juvenile nephropathic cystinosis">Juvenile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419735" ref="tree=MeSH" title="MedGen record for Nephropathic cystinosis">Nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419313" ref="tree=MeSH" title="MedGen record for Ocular cystinosis">Ocular cystinosis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37076389">Corneal cystinosis following eight years of systemic and topical treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Broyles HV,
|
||
Dockery PW,
|
||
Warner DB</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2023 Jun;46(6):671-672.
|
||
Epub 2023 Apr 17
|
||
doi: 10.1016/j.jfo.2022.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37076389" target="_blank">37076389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35352187">Rickets guidance: part II-management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Leifheit-Nestler M,
|
||
Grund A,
|
||
Schnabel D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2022 Oct;37(10):2289-2302.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s00467-022-05505-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35352187" target="_blank">35352187</a><a href="/pmc/articles/PMC9395459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24045844">Clinical utility gene card for: cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levtchenko E,
|
||
van den Heuvel L,
|
||
Emma F,
|
||
Antignac C</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 May;22(5)
|
||
Epub 2013 Sep 18
|
||
doi: 10.1038/ejhg.2013.204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24045844" target="_blank">24045844</a><a href="/pmc/articles/PMC3992566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cystinosis%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 (73)</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/39024833">Multiple antimicrobial and immune-modulating activities of cysteamine in infectious diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alonzi T,
|
||
Aiello A,
|
||
Sali M,
|
||
Delogu G,
|
||
Villella VR,
|
||
Raia V,
|
||
Nicastri E,
|
||
Piacentini M,
|
||
Goletti D</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2024 Sep;178:117153.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1016/j.biopha.2024.117153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39024833" target="_blank">39024833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36977426">Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hohenfellner K,
|
||
Zerell K,
|
||
Haffner D</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2023 Mar;240(3):251-259.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1055/a-2022-8522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36977426" target="_blank">36977426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32389669">Inherited disorders of lysosomal membrane transporters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huizing M,
|
||
Gahl WA</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Biomembr</span>
|
||
2020 Dec 1;1862(12):183336.
|
||
Epub 2020 May 8
|
||
doi: 10.1016/j.bbamem.2020.183336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32389669" target="_blank">32389669</a><a href="/pmc/articles/PMC7508925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30139461">Clinical Approach to Proximal Renal Tubular Acidosis in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finer G,
|
||
Landau D</span><br />
|
||
<span class="medgenPMjournal">Adv Chronic Kidney Dis</span>
|
||
2018 Jul;25(4):351-357.
|
||
doi: 10.1053/j.ackd.2018.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30139461" target="_blank">30139461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10863944">Lysosomal transport disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mancini GM,
|
||
Havelaar AC,
|
||
Verheijen FW</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2000 May;23(3):278-92.
|
||
doi: 10.1023/a:1005640214408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10863944" target="_blank">10863944</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cystinosis%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 (234)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729281">Inherited Fanconi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albuquerque ALB,
|
||
Dos Santos Borges R,
|
||
Conegundes AF,
|
||
Dos Santos EE,
|
||
Fu FMM,
|
||
Araujo CT,
|
||
Vaz de Castro PAS,
|
||
Simões E Silva AC</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Jul;19(7):619-634.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1007/s12519-023-00685-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729281" target="_blank">36729281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454741">Fanconi Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foreman JW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):159-167.
|
||
doi: 10.1016/j.pcl.2018.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454741" target="_blank">30454741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27102039">Cystinosis: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elmonem MA,
|
||
Veys KR,
|
||
Soliman NA,
|
||
van Dyck M,
|
||
van den Heuvel LP,
|
||
Levtchenko E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2016 Apr 22;11:47.
|
||
doi: 10.1186/s13023-016-0426-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27102039" target="_blank">27102039</a><a href="/pmc/articles/PMC4841061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12110740">Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gahl WA,
|
||
Thoene JG,
|
||
Schneider JA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2002 Jul 11;347(2):111-21.
|
||
doi: 10.1056/NEJMra020552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12110740" target="_blank">12110740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9286148">Nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gahl WA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
1997 Sep;18(9):302-4.
|
||
doi: 10.1542/pir.18-9-302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9286148" target="_blank">9286148</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cystinosis%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 (396)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36977426">Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hohenfellner K,
|
||
Zerell K,
|
||
Haffner D</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2023 Mar;240(3):251-259.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1055/a-2022-8522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36977426" target="_blank">36977426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35352187">Rickets guidance: part II-management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Leifheit-Nestler M,
|
||
Grund A,
|
||
Schnabel D</span><br />
|
||
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Bois E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cystinosis%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 (227)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32888903">Efficacy and Safety of Topical Cysteamine in Corneal Cystinosis: A Systematic Review and Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaur S,
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Sarma P,
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Kaur H,
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Prajapat M,
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Shekhar N,
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Bhattacharyya J,
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Kaur H,
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Kumar S,
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Medhi B,
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Ram J,
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Das D,
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Avti P,
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Prakash A,
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Singh R,
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Bhattacharyya A</span><br />
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2021 Mar;223:275-285.
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Epub 2020 Sep 2
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<span class="bold">PMID: </span><a href="/pubmed/32888903" target="_blank">32888903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32016627">Adult complications of nephropathic cystinosis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasimer RN,
|
||
Langman CB</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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||
2021 Feb;36(2):223-236.
|
||
Epub 2020 Feb 3
|
||
doi: 10.1007/s00467-020-04487-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32016627" target="_blank">32016627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28692321">A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Medic G,
|
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van der Weijden M,
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Karabis A,
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Hemels M</span><br />
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<span class="medgenPMjournal">Curr Med Res Opin</span>
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Epub 2017 Aug 3
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/28692321" target="_blank">28692321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cystinosis%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
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|
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4316899%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4316899%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4316899%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4316899%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C4316899%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C4316899%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4316899%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=213" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cystinosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cystinosis%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Cystinosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a href="/pubmed/20301574" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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