Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10315602" target="_blank" >RIV/00216208:11130/15:10315602 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/15:10315602 RIV/00023001:_____/15:00059573

Výsledek na webu

<a href="http://dx.doi.org/10.1371/journal.pone.0143939" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0143939</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0143939" target="_blank" >10.1371/journal.pone.0143939</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

Popis výsledku v původním jazyce

Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Fivebiliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All "biliary atresia" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome.

Název v anglickém jazyce

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

Popis výsledku anglicky

Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Fivebiliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All "biliary atresia" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

—

Projekt

—

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

PLoS ONE

ISSN

1932-6203

e-ISSN

—

Svazek periodika

10

Číslo periodika v rámci svazku

11

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

7

Strana od-do

—

Kód UT WoS článku

000365889800091

EID výsledku v databázi Scopus

2-s2.0-84957105474