Orphanet: Adrenoleukodystrophie, X-chromosomale

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class="service-color"><i class="fas fa-chevron-right"></i></span> <a href="/de/disease/list">Alphabetische Liste</a> </li> </ul> </div> </fieldset> <div class="row g-0"> <div class="col-12"> <div class="result-detail"> <div class="d-flex justify-content-between mb-4 mx-4"> <h2>Adrenoleukodystrophie, X-chromosomale</h2> <div class="btn text-white bg-orpa-blue" role="button" id="suggest-modal-btn" data-orphacode="43"> <span id="spinner" class="spinner-border-sm" role="status" aria-hidden="true"></span> <i class="fas fa-pen me-1"></i>Kommentar </div> </div> <div class="alert d-none mx-4"> <span class="success d-none"> Your message has been sent </span> <span class="error d-none"> Your message has not been sent. Please contact an administrator. </span> </div> <div class="modal fade" id="suggest-modal" tabindex="-1" aria-labelledby="#suggest-modal" aria-hidden="true"> <div class="modal-dialog modal-xl"> <div class="modal-content rounded-0"> <div class="modal-header rounded-0 py-0 justify-content-between text-white px-2 bg-orpa-blue"> Kommentar-Formular <div type="button" class="p-1" data-bs-dismiss="modal" aria-label="Close">X</div> </div> <div class="modal-body" data-orphacode="43"> </div> </div> </div> </div> <div class="mx-4 mb-4 p-4 service-color-box"> <strong class="d-block mb-3 service-color">Krankheitsdefinition</strong> <p> Die X-chromosomale Adrenoleukodystrophie (X-ALD) ist eine peroxisomale St枚rung mit zerebraler Demyelinierung und axonaler Dysfunktion im R眉ckenmark. Die Folgen sind spastische Paraplegie, Nebenniereninsuffizienz und in manchen F盲llen testikul盲re Insuffizienz. </p> </div> <div class="mx-4 mb-4 p-4 bg-gray"> <p class="fs-5 d-block mb-2 fw-bold">ORPHA:43</p> <p> <a href=" /de/disease/classification/list/name/Adrenoleukodystrophie-X-chromosomale?orphaCode=43">Klassifizierungsebene: St枚rung</a> </p> <div class="row"> <div class="col-6"> <strong>Synonym(e): </strong> <ul class="list-unstyled"> <li class="m-2">ALD</li> <li class="m-2">ALD, X-chromosomale</li> <li class="m-2">X-ALD</li> </ul> </div> <div class="col-3"> <p class="mt-3"> <strong>Pr盲valenzen: </strong> <span>-</span> </p> <p><strong>Erbgang: </strong><span>X-chromosomal-dominant</span></p> <p><strong>Manifestationsalter: </strong><span>Jugendalter, Erwachsenenalter, Kindesalter, 脛ltere Erwachsene</span></p> </div> <div class="col-3"> <p> <strong>ICD-10: </strong> E71.3 </p> <p><strong>ICD-11: </strong> <a target="_blank" href="https://icd.who.int/browse11/l-m/en#/http://id.who.int/icd/entity/1092479335">5C57.1</a> </p> <p><strong>OMIM: </strong> <a target="_blank" href="//omim.org/entry/300100">300100</a> <a target="_blank" href="//omim.org/entry/302700">302700</a> </p> <p><strong>UMLS: </strong> C0162309 </p> <p><strong>MeSH: </strong> D000326 </p> <p><strong>GARD: </strong> <a target="_blank" href="//rarediseases.info.nih.gov/diseases/5758/index">5758</a> </p> <p><strong>MedDRA: </strong> <span> 10051260 </span> </p> </div> </div> </div> <div class="h2 ms-4 py-4"> <a href="/en/disease/detail/43"> <i class="fas fa-sm fa-exclamation-triangle"></i> F眉r diese Krankheit ist ein aktuellere Kurzbeschreibung in der englischen Version verf眉gbar </a> </div> <div class="h2 ms-4 mb-4">Zusammenfassung</div> <div class="mx-4 summary"> <div class="fs-5 orpha-blue">Epidemiologie</div> <p class="mx-4">Die X-ALD ist die h盲ufigste peroxisomale St枚rung. Die Pr盲valenz bei Geburt (m盲nnlich und weiblich) ist gesch盲tzt 1/20.000. Sie wurde weltweit berichtet.</p> <div class="fs-5 orpha-blue">Klinische Beschreibung</div> <p class="mx-4">Die X-ALD beeintr盲chtigt m盲nnliche hemizygote Tr盲ger am st盲rksten und weniger stark 60% der weiblichen heterozygoten Tr盲ger. Erkrankungsalter und Morbidit盲t sind sehr unterschiedlich, Voraussagen 眉ber den weiteren Verlauf sind nicht m枚glich. M盲nnliche hemizygote Tr盲ger k枚nnen anfangs neurologische Symptome in zwei verschiedenen Auspr盲gungen zeigen: als X-chromosomale zerebrale Adrenoleukodystrophie (X-CALD) und als Adrenomyeloneuropathie (AMN). Die X-CALD ist die schwerste Verlaufsform der X-ALD und betrifft 2,5-12 Jahre alte Knaben in etwa 35% aller X-ALD-F盲lle. Sie kann sich seltener auch als das erste Symptom der X-ALD bei jugendlichen (<7%) oder erwachsenen (<5%) m盲nnlichen Patienten zeigen. Die prim盲ren Symptome der X-CALD sind m盲脽ige kognitive Defizite, gefolgt von verminderter Sehsch盲rfe, zentraler Taubheit, zerebell盲rer Ataxie, Hemiplegie und Krampfanf盲lle. In der Folge f眉hrt ein dementiver Abbau innerhalb einiger Jahre zu einem neurovegetativen Status und zum Tod. Die AMN ist gekennzeichnet durch eine spastische Paraparese bei M盲nnern mit Beginn im Erwachsenenalter (Durchschnittsalter 30 Jahre), assoziiert mit Gangst枚rungen aufgrund einer sensorischen Ataxie, und mit Miktionsst枚rungen und sexueller Dysfunktion. In 35% aller F盲lle schreitet die AMN 眉ber einen Zeitraum von 10 Jahren zu schwerer Paraplegie fort. die durch die zentrale Demyelinisierung weiter kompliziert wird (X-CALD). Bei 70% aller m盲nnlichen X-ALD-Patienten besteht eine Nebennierenrindeninsuffizienz (AI). Sie kann Jahre oder sogar Jahrzehnte vor dem Einsetzen der neurologischen Symptome das Erstsymptom darstellen. Die AI bei X-ALD erinnert an die Addison-Krankheit, sie manifestiert sich mit M眉digkeit, 脺belkeit, Gewichtsverlust, niedrigen Blutdruck und Hypoglyk盲mie. Eine akute prim盲re Nebenniereninsuffizienz oder Nebennierenkrise kann das erste Symptom einer X-ALD sein. Bei 10% aller m盲nnlichen X-ALD-Patienten kann die AI 眉ber mehrere Jahre hinweg das einzige Symptom der Erkrankung sein. Allerdings besteht bei allen Patienten, die eine anfangs isolierte AI zeigen, das Risiko, dass sie eine X-CALD, eine AMN oder beides entwickeln. Auch Hypogonadismus wurde bei erwachsenen m盲nnlichen Patienten mit X-ALD beschrieben. Viele weibliche Tr盲ger der X-ALD (>60%) zeigen Anzeichen einer AMN, wenn auch weniger schwer ausgepr盲gt als bei m盲nnlichen Patienten und mit einem sp盲teren Beginn (>40 Jahre). Bei diesen Frauen mit AMN-Symptomen sind X-CALD und AI selten (2% bzw. 1%).</p> <div class="fs-5 orpha-blue">脛tiologie</div> <p class="mx-4">Ursache der X-ALD sind Mutationen im <i>ABCD1</i>-Gen (Xq28). Mehr als 1.200 verschiedene Mutationen wurden in diesem Gen beschrieben. Zwischen den verschiedenen Mutationen und dem Ph盲notyp konnte keine direkte Korrelation ermittelt werden. Das Gen kodiert ALDP, ein peroxisomales Transmembran-Protein, das am Transport der CoA-Ester der sehr langkettigen Fetts盲uren (VLCFA) vom Zytosol in das Peroxisom beteiligt ist. Mangel oder Funktionsst枚rung des ALDP f眉hrt zur Akkumulation der hydrophoben VLCFA in verschiedenen Lipidfraktionen und in Proteinen, die mit Fetts盲uren acyliert sind. Eine gest枚rte VLCFA-Hom枚ostase in Gliazellen kann zur Destabilisierung des Myelinmantels und der Beeintr盲chtigung der axonalen Funktionsf盲higkeit beitragen. Bei m盲nnlichen Patienten ist die Diagnose durch Messung der VLCFA im Plasma m枚glich. Ein signifikanter Anteil heterozygoter Frauen mit X-ALD weist normale VLCFA-Werte im Plasma auf.</p> <div class="fs-5 orpha-blue">Pr盲nataldiagnostik</div> <p class="mx-4">Eine pr盲natale <i>ABCD1</i>-Mutationsanalyse kann durchgef眉hrt werden und eine Pr盲implantations-Gendiagnose wird in einigen L盲ndern angeboten.</p> <div class="fs-5 orpha-blue">Genetische Beratung</div> <p class="mx-4">Die 脺bertragung erfolgt X-chromosomal mit vollst盲ndiger Penetranz bei m盲nnlichen hemizygoten Tr盲gern, und 60% der weiblichen heterozygoten Tr盲ger entwickeln sp盲ter im Leben weniger schwere neurologische Symptome. Eine genetische Beratung ist den Eltern und der erweiterten Familie der X-ALD-Betroffenen anzubieten, und Gentests sowohl zur Erkennung von Tr盲gern als auch zur Beobachtung pr盲symptomatischer Jungen oder erwachsener m盲nnlicher Patienten sind obligatorisch.</p> <span class="expert-list fst-italic fw-lighter"> Aktualisiert am: <span class="fw-bold">M盲rz 2013</span> </span> <span class="expert-list fst-italic fw-lighter"> - Gutachter : <span class="fw-bold">Pr Patrick AUBOURG </span> </span> </div> <div class="mx-4 mb-3 mt-4 fw-bold"> <i class="fas fa-book orpha-blue fs-4"></i> F眉r diese Krankheit ist eine Kurzbeschreibung in den folgenden Sprachversionen verf眉gbar: <span> <a href="/en/disease/detail/43">English</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="/fr/disease/detail/43">Fran莽ais</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="/es/disease/detail/43">Espa帽ol</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="/it/disease/detail/43">Italiano</a> (2013) </span> <span> <a href="/pt/disease/detail/43">Portugu锚s</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="/nl/disease/detail/43">Nederlands</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="https://www.orpha.net/data/patho/FI/Xkromosominenadrenoleukodystrofia-FifiAbs761--p-ivitys-2014.pdf">Suomi</a> (2013.pdf) </span> <span> <a href="http://www.orpha.net/data/patho/Pro/pl/AdrenoleukodystrofiaaSprzezonaZChromosomemX_PL_pl_PRO_ORPHA43.pdf">Polski</a> (2013.pdf) </span> </div> <div class="m-4 bg-gray p-4"> <div class="h4" id="detailed-info"><i class="fas fa-file"></i> Detaillierte Informationen</div> <div class="row mt-2 small"> <div class="col-md-6 col-12"> <h5 class="fw-bold mt-4">Allgemeine 脰ffentlichkeit</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Artikel f眉r die allgemeine 脰ffentlichkeit </strong> <div class="mt-1"> <a target="_blank" href="http://www.orpha.net/data/patho/Pub/Ext/de/Adrenoleukodystrophie_DE_de_PUB_ORPHA43.pdf">Deutsch (2014.pdf)</a> <span class="fst-italic small"> - 脛ZQ</span> <br /> </div> <div class="mt-1"> <a target="_blank" href="https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/om-kunskapsdatabasen/sok-bland-sallsynta-halsotillstand/adrenoleukodystrofi-och-adrenomyeloneuropati/">Svenska (2018)</a> <span class="fst-italic small"> - Socialstyrelsen</span> <br /> </div> </div> <h5 class="fw-bold mt-4">Leitlinien</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Klinische Leitlinien </strong> <div class="mt-1"> <a target="_blank" href="http://www.has-sante.fr/jcms/p_3292277/fr/adrenoleucodystrophie">Fran莽ais (2021)</a> <span class="fst-italic small"> - PNDS</span> <img src="/build/images/FSMR.png" alt="Logo FSMR"> <br /> </div> <div class="mt-1"> <a target="_blank" href="http://www.has-sante.fr/jcms/p_3292277/fr/adrenoleucodystrophie">Fran莽ais (2021)</a> <span class="fst-italic small"> - PNDS</span> <img src="/build/images/FSMR.png" alt="Logo FSMR"> <br /> </div> <div class="mt-1"> <a target="_blank" href="http://www.awmf.org/leitlinien/detail/ll/030-118.html">Deutsch (2022)</a> <span class="fst-italic small"> - AWMF</span> <br /> </div> <div class="mt-1"> <a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/24330030/">English (2014)</a> <span class="fst-italic small"> - J Intern Med</span> <img src="/build/images/ERN.png" alt="Logo ERN"> <br /> </div> </div> </div> <div class="col-md-6 col-12"> <h5 class="fw-bold mt-4">脺bersichtsartikel</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Review-Artikel </strong> <div class="mt-1"> <a target="_blank" href="http://www.ojrd.com/content/7/1/51/abstract">English (2012)</a> <span class="fst-italic small"> - Orphanet J Rare Dis</span> <br /> </div> </div> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Review-Artikel (Klinischen Genetik) </strong> <div class="mt-1"> <a target="_blank" href="http://www.ncbi.nlm.nih.gov/books/n/gene/x-ald/">English (2023)</a> <span class="fst-italic small"> - GeneReviews</span> <br /> </div> </div> <h5 class="fw-bold mt-4">Genetische Tests</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Empfehlungen f眉r den Gentest </strong> <div class="mt-1"> <a target="_blank" href="https://anpgm.fr/media/documents/ANPGM_125-Hypogonadismes_hypogonadotropes.pdf">Fran莽ais (2016.pdf)</a> <span class="fst-italic small"> - ANPGM</span> <br /> </div> <div class="mt-1"> <a target="_blank" href="https://www.nature.com/articles/ejhg2011193">English (2011)</a> <span class="fst-italic small"> - Eur J Hum Genet</span> <br /> </div> </div> </div> </div> <p class="small mt-4"> <img src="/build/images/ERN.png" alt="Logo ERN">: erstellt/empfohlen von ERN <img src="/build/images/FSMR.png" alt="Logo FSMR">: erstellt/empfohlen von FSMR </p> </div> <div class="m-4 service-color-box p-4"> <div class="h4 mb-4"><i class="fas fa-file"></i> Zusatzinformationen</div> <div class="row"> <div class="col-4"> <p class="fw-bold">Weitere Informationen 眉ber diese Krankheit</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/disease/classification/list/name/Adrenoleukodystrophie-X-chromosomale?orphaCode=43"> Klassifikation(en) (6)</a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/disease/gene/list/43?mode=name"> Gen(e) (1)</a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/disease/sign/43"> Klinische Zeichen und Symptome</a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=adrenoleukodystrophy%5Bmajr%5D+AND+X+linked%5Btw%5D"> Ver枚ffentlichungen in PubMed</a> </li> </ul> </div> <div class="col-4"> <p class="fw-bold">Patientenorientierte Ressourcen f眉r diese Krankheit</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/expert-centres/centres/43?name=Adrenoleukodystrophie,%20X-chromosomale&consulting=medical&age=all&official=0"> Expertenzentren (558) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/expert-centres/networks?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Netzwerke (22) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/diagnostic-tests/diagnostics?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Diagnostische Tests (119) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/patient-organisations?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Selbsthilfeorganisationen (148) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/patient-organisations/federations-alliances?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Verb盲nde/Allianzen (46) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/drug?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale&mode=all"> Orphan-Designation(s) und Orphan Drug(s) (31) </a> </li> </ul> </div> <div class="col-4"> <p class="fw-bold">Relevante Forschungsaktivit盲ten</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/research-trials/research-projects?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Forschungsprojekte (87) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/research-trials/clinical-trials?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Klinische Studien (6) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/research-trials/biobanks?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Biobanken (11) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/research-trials/registries?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Register (28) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/de/institutions/expert-networks?orphaCode=43&diseaseName=Adrenoleukodystrophie,%20X-chromosomale"> Expertennetzwerk (10) </a> </li> </ul> <p class="fw-bold">Neugeborenenscreening</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a target="_blank" href="https://nbs.orphanet.app/?lang=de">Informationen zum Neugeborenenscreening</a> </li> </ul> </div> </div> </div> <div class="mx-4"> <small>Die Dokumente dieser Website dienen nur der allgemeinen Information. Der Inhalt dieser Website ersetzt in keiner Weise eine professionelle Beratung oder Behandlung durch qualifizierte Fachleute. Die vorliegenden Informationen d眉rfen nicht als Grundlage f眉r eine Diagnose oder Behandlung verwendet werden.</small> </div> </div> </div> </div> </div> </main> </div> </article> </article> </main> <script src="/build/runtime.f3575a88.js" defer></script><script src="/build/755.5a8586e9.js" defer></script><script src="/build/673.f47275b8.js" defer></script><script src="/build/467.7cd7293e.js" defer></script><script src="/build/app.f38c68b0.js" defer></script> <script type="application/ld+json"> { "@context": "http://schema.org/", "@type": "MedicalCondition", "@id": "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=de&Expert=43", "identifier": "43", "name": { "@type": "PronounceableText", "inLanguage": "DE", "textValue": "Adrenoleukodystrophie, X-chromosomale" }, "alternateName": [ "ALD", "ALD, X-chromosomale", "X-ALD" ], "epidemiology": "", "code": [ { "@type": "MedicalCode", "codeValue": "ORPHA:43", "codingSystem": "ORPHAcode" }, { "@type": "MedicalCode", "codeValue": "https://pubmed.ncbi.nlm.nih.gov/?term=adrenoleukodystrophy%5Bmajr%5D+AND+X+linked%5Btw%5D", "codingSystem": "Medline" }, { "@type": "MedicalCode", "codeValue": "10051260", "codingSystem": "MedDRA" }, { "@type": "MedicalCode", "codeValue": "E71.3", "codingSystem": "ICD-10" }, { "@type": "MedicalCode", "codeValue": "300100", "codingSystem": "OMIM" }, { "@type": "MedicalCode", "codeValue": "302700", "codingSystem": "OMIM" }, { "@type": "MedicalCode", "codeValue": "C0162309", "codingSystem": "UMLS" }, { "@type": "MedicalCode", "codeValue": "65389002", "codingSystem": "SNOMED CT" }, { "@type": "MedicalCode", "codeValue": "5C57.1", "codingSystem": "ICD-11" }, { "@type": "MedicalCode", "codeValue": "5758", "codingSystem": "GARD" }, { "@type": "MedicalCode", "codeValue": "D000326", "codingSystem": "MeSH" } ], "description": "Die X-chromosomale Adrenoleukodystrophie (X-ALD) ist eine peroxisomale St\u00f6rung mit zerebraler Demyelinierung und axonaler Dysfunktion im R\u00fcckenmark. 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