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Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10294531" target="_blank" >RIV/00216208:11130/15:10294531 - isvavai.cz</a>

  • Alternative codes found

    RIV/00023761:_____/15:#0000531 RIV/00064203:_____/15:10294531

  • Result on the web

    <a href="http://dx.doi.org/10.3748/wjg.v21.i8.2550" target="_blank" >http://dx.doi.org/10.3748/wjg.v21.i8.2550</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3748/wjg.v21.i8.2550" target="_blank" >10.3748/wjg.v21.i8.2550</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review

  • Original language description

    Hepatocyte nuclear factor 1-beta (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young. However, the hepatic phenotype of HNF1B variants is not well studied. We present a female neonate born small for her gestational age [birth weight 2360 g; -2.02 standard deviations (SD) and birth length 45 cm; -2.40 SD at the 38th gestational week]. She developed neonatal cholestasis due to biliary atresia and required surgical intervention (portoenterostomy) when 32-d old. Following the operation, icterus resolved, but laboratory signs of liver dysfunction persisted. She had hyperechogenic kidneys prenatally with bilateral renal cysts and pancreatic hypoplasia postnatally that led to the diagnosis of an HNF1Bdeletion. This represents the most severe hepatic phenotype of an HNF1B variant recognized thus far. A review of 12 published cases with hepatic phenotypes of HNF1B defects allowed us to distinguish three severity levels, ranging from neo

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FG - Paediatrics

  • OECD FORD branch

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2015

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    World Journal of Gastroenterology

  • ISSN

    1007-9327

  • e-ISSN

  • Volume of the periodical

    21

  • Issue of the periodical within the volume

    8

  • Country of publishing house

    CN - CHINA

  • Number of pages

    8

  • Pages from-to

    2550-2557

  • UT code for WoS article

    000350687000036

  • EID of the result in the Scopus database

    2-s2.0-84923823981