CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Identifieur interne : 000423 ( PubMed/Curation ); précédent : 000422; suivant : 000424CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Auteurs : André Viveiros [Autriche] ; Marion Reiterer [Autriche] ; Benedikt Schaefer [Autriche] ; Armin Finkenstedt [Autriche] ; Stefan Schneeberger [Autriche] ; Hubert Schwaighofer [Autriche] ; Patrizia Moser [Autriche] ; Rudolf Sprenger [Autriche] ; Bernhard Glodny [Autriche] ; Wolfgang Vogel [Autriche] ; Andreas R. Janecke [Autriche] ; Heinz Zoller [Autriche]Source :
- Hepatology (Baltimore, Md.) [ 1527-3350 ] ; 2017.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Angiocholite sclérosante (anatomopathologie), Angiocholite sclérosante (génétique), Angiocholite sclérosante (imagerie diagnostique), Cholangiographie (), Cholestase (), Cholestase (imagerie diagnostique), Humains, Imagerie par résonance magnétique (), Immunohistochimie, Indice de gravité médicale, Lymphoedème (), Lymphoedème (imagerie diagnostique), Maladies rares, Mutation, Ponction-biopsie à l'aiguille, Protéines de liaison au calcium (génétique), Protéines suppresseurs de tumeurs (génétique), Prédisposition génétique à une maladie, Récidive.
- MESH :
- anatomopathologie : Angiocholite sclérosante.
- génétique : Angiocholite sclérosante, Protéines de liaison au calcium, Protéines suppresseurs de tumeurs.
- imagerie diagnostique : Angiocholite sclérosante, Cholestase, Lymphoedème.
- Adulte d'âge moyen, Cholangiographie, Cholestase, Humains, Imagerie par résonance magnétique, Immunohistochimie, Indice de gravité médicale, Lymphoedème, Maladies rares, Mutation, Ponction-biopsie à l'aiguille, Prédisposition génétique à une maladie, Récidive.
English descriptors
- KwdEn :
- Biopsy, Needle, Calcium-Binding Proteins (genetics), Cholangiography (methods), Cholangitis, Sclerosing (diagnostic imaging), Cholangitis, Sclerosing (genetics), Cholangitis, Sclerosing (pathology), Cholestasis (diagnostic imaging), Cholestasis (therapy), Genetic Predisposition to Disease, Humans, Immunohistochemistry, Lymphedema (diagnostic imaging), Lymphedema (therapy), Magnetic Resonance Imaging (methods), Middle Aged, Mutation, Rare Diseases, Recurrence, Severity of Illness Index, Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : Calcium-Binding Proteins, Tumor Suppressor Proteins.
- diagnostic imaging : Cholangitis, Sclerosing, Cholestasis, Lymphedema.
- genetics : Cholangitis, Sclerosing.
- methods : Cholangiography, Magnetic Resonance Imaging.
- pathology : Cholangitis, Sclerosing.
- therapy : Cholestasis, Lymphedema.
- Biopsy, Needle, Genetic Predisposition to Disease, Humans, Immunohistochemistry, Middle Aged, Mutation, Rare Diseases, Recurrence, Severity of Illness Index.
Abstract
A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).
DOI: 10.1002/hep.29037
PubMed: 28073151
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pubmed:28073151Le document en format XML
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<front><div type="abstract" xml:lang="en">A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).</div>
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<Abstract><AbstractText>A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).</AbstractText>
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<ForeName>Rudolf</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Center for Endoscopy Kessler & Sprenger, Feldkirch, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Glodny</LastName>
<ForeName>Bernhard</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vogel</LastName>
<ForeName>Wolfgang</ForeName>
<Initials>W</Initials>
<AffiliationInfo><Affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Janecke</LastName>
<ForeName>Andreas R</ForeName>
<Initials>AR</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zoller</LastName>
<ForeName>Heinz</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2017</Year>
<Month>05</Month>
<Day>09</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Hepatology</MedlineTA>
<NlmUniqueID>8302946</NlmUniqueID>
<ISSNLinking>0270-9139</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C546964">CCBE1 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D002135">Calcium-Binding Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D025521">Tumor Suppressor Proteins</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C535330">Aagenaes syndrome</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D001707" MajorTopicYN="N">Biopsy, Needle</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002135" MajorTopicYN="N">Calcium-Binding Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002758" MajorTopicYN="N">Cholangiography</DescriptorName>
<QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015209" MajorTopicYN="N">Cholangitis, Sclerosing</DescriptorName>
<QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002779" MajorTopicYN="N">Cholestasis</DescriptorName>
<QualifierName UI="Q000000981" MajorTopicYN="Y">diagnostic imaging</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007150" MajorTopicYN="N">Immunohistochemistry</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000000981" MajorTopicYN="Y">diagnostic imaging</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName>
<QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D035583" MajorTopicYN="N">Rare Diseases</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012008" MajorTopicYN="N">Recurrence</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012720" MajorTopicYN="N">Severity of Illness Index</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D025521" MajorTopicYN="N">Tumor Suppressor Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>09</Month>
<Day>08</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>12</Month>
<Day>28</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2017</Year>
<Month>1</Month>
<Day>11</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2017</Year>
<Month>9</Month>
<Day>14</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2017</Year>
<Month>1</Month>
<Day>11</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">28073151</ArticleId>
<ArticleId IdType="doi">10.1002/hep.29037</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
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