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
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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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
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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