Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3).
Maturity-onset diabetes of the young type 3 (MODY3) is caused by heterozygous mutation in the HNF1A gene. Liver adenomatosis has been reported in MODY3 patients. The patient reported in this paper is a Japanese girl who first developed hepatomegaly, fatty liver, and hepatic dysfunction at age 5 years. Liver biopsy demonstrated steatosis and degeneration of hepatocytes. At that time, blood glucose and HbA1c levels were within normal ranges. Elevated HbA1c was noticed 4 years later, but islet cell and glutamic acid decarboxylase antibodies were not detected in the serum. Therefore, MODY3 was suspected and subsequent analysis of the HNF1A gene identified a heterozygous germline splice donor-site mutation in intron 9.  MODY3 patients should be screened by non-invasive liver imaging, and careful follow-up of liver disease should be performed.
Hokkaido University School of Medicine, Department of Pediatrics, Sapporo, Japan.
Akie
A
Nakamura
Katsura
K
Ishidu
Toshihiro
T
Tajima
D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005234:Fatty Liver / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics; D006801:Humans; D007564:Japan; D008099:Liver / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D013997:Time Factors; D055815:Young Adult
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha