Published online Jul 15, 2019. doi: 10.4239/wjd.v10.i7.414
Peer-review started: February 20, 2019
First decision: May 8, 2019
Revised: May 24, 2019
Accepted: June 11, 2019
Article in press: June 11, 2019
Published online: July 15, 2019
Processing time: 147 Days and 3.8 Hours
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 findings underscore the essential role of molecular genetics in diagnosis and guidance of appropriate treatment of diabetes mellitus in particular patient.
Core tip: Maturity-onset diabetes of the young (MODY) is the most common form of diabetes in patients diagnosed under the age of 25. In addition, MODY is characterized by autosomal dominant inheritance. We report a R203C mutation in the HNF1A causing MODY type 3. The genetic diagnosis is implicated to alter SU treatment. This study revealed that excellent glycemic control in this patient could be achieved by very low dose SU. Furthermore, this is the first report of exceptional response to treatment with SU in Thai MODY3.