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Case Reports
. 2021 Jun 25;2(3):e085.
doi: 10.1097/PG9.0000000000000085. eCollection 2021 Aug.

Liver Transplantation and Development of Diabetes in an Adolescent Male With HNF1B Disease

Jody A Weckwerth  1 , Amanda R Dahl  2 , Siobhan T Pittock  2 , Seema Kumar  2 , Charles B Rosen  3 , Rayna M Grothe  1 , Katryn N Furuya  4
Affiliations
Case Reports

Liver Transplantation and Development of Diabetes in an Adolescent Male With HNF1B Disease

Jody A Weckwerth et al. JPGN Rep. .

Abstract

Mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene cause a variety of diseases in different organ systems. Mutations have been described as causing neonatal cholestasis, maturity-onset diabetes of the young (type 5), cortical renal cysts, urogenital abnormalities, liver dysfunction, and atrophy of the pancreas. We describe a male patient who presented with cholestatic liver disease in infancy which progressed by age 14 to end-stage liver disease due to HNF1B disease. He subsequently underwent liver transplantation at age 15 and then developed diabetes requiring insulin which did not resolve after cessation of corticosteroids. To our knowledge, this is the first case reported of liver transplantation for decompensated cirrhosis secondary to HNF1B disease.

Keywords: HNF-1-beta; HNF1B; MODY type 5; cholestatic liver disease; liver transplantation.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
Liver explant photograph.
See this image and copyright information in PMC

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