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J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):104-6. doi: 10.4274/jcrpe.584.

Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3).

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1
Hokkaido University School of Medicine, Department of Pediatrics, Sapporo, Japan.

Abstract

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.

PMID:
22672869
PMCID:
PMC3386769
DOI:
10.4274/jcrpe.584
[Indexed for MEDLINE]
Free PMC Article
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