ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 4 Issue : 2 Year : 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3) [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2012; 4(2): 104-106 | DOI: 10.4274/Jcrpe.584

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

Akie Nakamura1, Katsura İshidu1, Toshihiro Tajima1
Hokkaido University School Of Medicine, Department Of Pediatrics, Sapporo, Japan

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.

Keywords: Gene mutation,liver disease,MODY3,steatosis

Akie Nakamura, Katsura İshidu, Toshihiro Tajima. Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3). J Clin Res Pediatr Endocrinol. 2012; 4(2): 104-106
Manuscript Language: English
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