LymphedemaV1, Main, Exploration, bibRecord, 000737

CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.

Identifieur interne : 000737 ( Main/Exploration ); précédent : 000736; suivant : 000738

CCBE1 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.

RBID : pubmed:28073151

Descripteurs français

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

Affiliations:

Le document en format XML

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<term>Cholangitis, Sclerosing (diagnostic imaging)</term>
<term>Cholangitis, Sclerosing (genetics)</term>
<term>Cholangitis, Sclerosing (pathology)</term>
<term>Cholestasis (diagnostic imaging)</term>
<term>Cholestasis (therapy)</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Lymphedema (diagnostic imaging)</term>
<term>Lymphedema (therapy)</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Rare Diseases</term>
<term>Recurrence</term>
<term>Severity of Illness Index</term>
<term>Tumor Suppressor Proteins (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term>
<term>Angiocholite sclérosante (anatomopathologie)</term>
<term>Angiocholite sclérosante (génétique)</term>
<term>Angiocholite sclérosante (imagerie diagnostique)</term>
<term>Cholangiographie ()</term>
<term>Cholestase ()</term>
<term>Cholestase (imagerie diagnostique)</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique ()</term>
<term>Immunohistochimie</term>
<term>Indice de gravité médicale</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (imagerie diagnostique)</term>
<term>Maladies rares</term>
<term>Mutation</term>
<term>Ponction-biopsie à l'aiguille</term>
<term>Protéines de liaison au calcium (génétique)</term>
<term>Protéines suppresseurs de tumeurs (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Récidive</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium-Binding Proteins</term>
<term>Tumor Suppressor Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Angiocholite sclérosante</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Cholangitis, Sclerosing</term>
<term>Cholestasis</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholangitis, Sclerosing</term>
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<term>Protéines de liaison au calcium</term>
<term>Protéines suppresseurs de tumeurs</term>
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<term>Cholestase</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Cholangiography</term>
<term>Magnetic Resonance Imaging</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cholangitis, Sclerosing</term>
</keywords>
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<term>Lymphedema</term>
</keywords>
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<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Rare Diseases</term>
<term>Recurrence</term>
<term>Severity of Illness Index</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term>
<term>Cholangiographie</term>
<term>Cholestase</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Immunohistochimie</term>
<term>Indice de gravité médicale</term>
<term>Lymphoedème</term>
<term>Maladies rares</term>
<term>Mutation</term>
<term>Ponction-biopsie à l'aiguille</term>
<term>Prédisposition génétique à une maladie</term>
<term>Récidive</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</front>
</TEI>
<affiliations><list><country><li>Autriche</li>
</country>
<region><li>Tyrol (Land)</li>
</region>
<settlement><li>Innsbruck</li>
</settlement>
<orgName><li>Université de médecine d'Innsbruck</li>
</orgName>
</list>
<tree><country name="Autriche"><region name="Tyrol (Land)"><name sortKey="Viveiros, Andre" sort="Viveiros, Andre" uniqKey="Viveiros A" first="André" last="Viveiros">André Viveiros</name>
</region>
<name sortKey="Finkenstedt, Armin" sort="Finkenstedt, Armin" uniqKey="Finkenstedt A" first="Armin" last="Finkenstedt">Armin Finkenstedt</name>
<name sortKey="Glodny, Bernhard" sort="Glodny, Bernhard" uniqKey="Glodny B" first="Bernhard" last="Glodny">Bernhard Glodny</name>
<name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R" last="Janecke">Andreas R. Janecke</name>
<name sortKey="Moser, Patrizia" sort="Moser, Patrizia" uniqKey="Moser P" first="Patrizia" last="Moser">Patrizia Moser</name>
<name sortKey="Reiterer, Marion" sort="Reiterer, Marion" uniqKey="Reiterer M" first="Marion" last="Reiterer">Marion Reiterer</name>
<name sortKey="Schaefer, Benedikt" sort="Schaefer, Benedikt" uniqKey="Schaefer B" first="Benedikt" last="Schaefer">Benedikt Schaefer</name>
<name sortKey="Schneeberger, Stefan" sort="Schneeberger, Stefan" uniqKey="Schneeberger S" first="Stefan" last="Schneeberger">Stefan Schneeberger</name>
<name sortKey="Schwaighofer, Hubert" sort="Schwaighofer, Hubert" uniqKey="Schwaighofer H" first="Hubert" last="Schwaighofer">Hubert Schwaighofer</name>
<name sortKey="Sprenger, Rudolf" sort="Sprenger, Rudolf" uniqKey="Sprenger R" first="Rudolf" last="Sprenger">Rudolf Sprenger</name>
<name sortKey="Vogel, Wolfgang" sort="Vogel, Wolfgang" uniqKey="Vogel W" first="Wolfgang" last="Vogel">Wolfgang Vogel</name>
<name sortKey="Zoller, Heinz" sort="Zoller, Heinz" uniqKey="Zoller H" first="Heinz" last="Zoller">Heinz Zoller</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur le lymphœdème

CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.

CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.

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	Serveur d'exploration sur le lymphœdème
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