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

World Journal of Gastroenterology : WJG
Radana KotalováStěpánka Průhová

Abstract

Hepatocyte nuclear factor 1-β (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 38(th) 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 HNF1B deletion. 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 neonatal cholestasis through adult-onset cholestasis to non-cholestatic liver impairment, all of these are associated with congenital renal cysts and mostly with diabetes later in life. We conclude that to detect HNF1B variants, neonates with cholesta...Continue Reading

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Citations

Sep 1, 2015·Journal of the American Society of Nephrology : JASN·Jacobien C VerhaveTom Nijenhuis
Sep 13, 2016·Diabetes, Obesity & Metabolism·R El-Khairi, L Vallier
Mar 23, 2017·The Journal of Clinical Endocrinology and Metabolism·Jarno L T KettunenTiinamaija Tuomi
Jun 25, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Karen Van HoevePeter Witters
Jul 23, 2018·The Journal of Clinical Endocrinology and Metabolism·Natascha RoehlenKatharina Laubner
Dec 27, 2018·Current Opinion in Gastroenterology·Muriel Girard, Ganna Panasyuk
May 5, 2018·Journal of Pediatric Gastroenterology and Nutrition·Cécile de LeusseAlexandre Fabre
Feb 7, 2018·Applied Immunohistochemistry & Molecular Morphology : AIMM·Usama F ShaalanMohamed O Abd El-Fatah
Jul 7, 2017·Endocrinology, Diabetes & Metabolism Case Reports·Elena CarrilloCristina Lamas
Sep 25, 2017·Annals of Human Genetics·Radana KotalovaStepanka Pruhova
Feb 19, 2020·Scientific Reports·Ramakrishnan RajagopalanMarcella Devoto

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