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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

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

CEP obor

FG - Pediatrie

OECD FORD obor

—

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

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

World Journal of Gastroenterology

ISSN

1007-9327

e-ISSN

—

Svazek periodika

21

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

CN - Čínská lidová republika

Počet stran výsledku

8

Strana od-do

2550-2557

Kód UT WoS článku

000350687000036

EID výsledku v databázi Scopus

2-s2.0-84923823981