HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report

World Journal of Diabetes
Nattachet PlengvidhyaPa-Thai Yenchitsomanus

Abstract

Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes. The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year. MODY 3 is caused by mutation of hepatocyte nuclear factor (HNF) 1A genes and is the most common MODY subtype. Diagnosis of MODY 3 is crucial since glycemic control can be accomplished by very low dose of sulfonylurea. In this report we described a Thai MODY 3 patient who had excellence plasma glucose control by treating with glicazide 20 mg per day and insulin therapy can be discontinued. A 31-year-old woman was diagnosed diabetes mellitus at 14 years old. The disease was transmitted from her grandmother and mother compatible with autosomal dominant inheritance. Sanger sequencing of proband's DNA identified mutation of HNF1A at codon 203 which changed amino acid from arginine to cysteine (R203C). This mutation was carried only by family members who have diabetes. The patient has been treated effectively with a combination of oral hypoglycemic agents and must include a very low dose of glicazide (20 mg/d). Insulin therapy was successfully discontinued. We demonstrated a first case of pharmacogenetics in Thai MODY 3 patient. Our findi...Continue Reading

References

Sep 6, 2000·Diabetic Medicine : a Journal of the British Diabetic Association·E R PearsonA T Hattersley
Sep 29, 2001·The New England Journal of Medicine·S S FajansK S Polonsky
Apr 25, 2006·Diabetes Research and Clinical Practice·Jin Soon HwangNam Huh
Sep 25, 2008·Clinical Endocrinology·Nattachet PlengvidhyaPa-thai Yenchitsomanus
Mar 15, 2015·Hormone Research in Pædiatrics·Ye Jee ShimCheol Woo Ko
Jan 30, 2016·Diabetes Research and Clinical Practice·Souhaïra Ben KhelifaAbdelhedi Miled
Mar 21, 2017·Diabetologia·Andrew T Hattersley, Kashyap A Patel
Aug 19, 2018·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Andrzej CzyrskiTadeusz Hermann

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