Hepatocyte Nuclear Factor 1-β Gene Mutation: Brief Report and Review of Hepatic Involvement

Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)

“…Liver biopsies performed during the evaluation of cholestasis or persistent elevation in liver enzymes in patients with HNF-1b defects show varied histological findings. 3 In these cases, needle liver biopsy revealed mild nonspecific findings, indicating no significant inflammation or steatosis.…”

“…9,10 Abnormalities of the hepatobiliary tract present as neonatal cholestasis, hepatomegaly, steatosis, and increased ALT and/or GGT levels. 3 Although there have been many cases of renal pathology associated with HNF-1bassociated disease, there are few reported cases of MODY with abnormal hepatobiliary findings. 11 We present 2 siblings with persistent elevated liver enzymes with maternal family history for insulin-dependent diabetes.…”

“…Hepatocyte nuclear factor-1 beta (HNF-1b/B) is a transcription factor (TCF) of the homeodomain-containing family that is expressed in various organs including the gut, liver, pancreas, kidney, and urogenital tract. [1][2][3] Maturity-onset diabetes of the young (MODY) is a variant of autosomal dominant monogenic diabetes characterized by early onset (before age 25 years) and progressive dysfunction of pancreatic beta cells. 3 MODY is difficult to differentiate from diabetes mellitus type 1 and requires genetic analysis to be accurately diagnosed.…”

“…[1][2][3] Maturity-onset diabetes of the young (MODY) is a variant of autosomal dominant monogenic diabetes characterized by early onset (before age 25 years) and progressive dysfunction of pancreatic beta cells. 3 MODY is difficult to differentiate from diabetes mellitus type 1 and requires genetic analysis to be accurately diagnosed.…”