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

作　　者：Nattachet Plengvidhya Watip Tangjittipokin Nipaporn Teerawattanapong Tassanee Narkdontri Pa-thai Yenchitsomanus 

机构地区：[1]Division of Endocrinology and Metabolism,Department of Medicine,Faculty of Medicine Siriraj Hospital,Mahidol University,Bangkok 10700,Thailand [2]Siriraj Center of Research Excellence for Diabetes and Obesity,Faculty of Medicine Siriraj Hospital,Mahidol University,Bangkok 10700,Thailand [3]Department of Immunology,Faculty of Medicine Siriraj Hospital,Mahidol University,Bangkok 10700,Thailand [4]Research Division,Department of Research and Development,Faculty of Medicine Siriraj Hospital,Mahidol University,Bangkok 10700,Thailand [5]Siriraj Center of Research Excellence for Molecular Medicine,Faculty of Medicine Siriraj Hospital,Mahidol University,Bangkok 10700,Thailand

出　　处：《World Journal of Diabetes》2019年第7期414-420,共7页世界糖尿病杂志（英文版）（电子版）

基　　金：Supported by Mahidol University Research Grant,Nos.R015810001and 016120003(to Nattachet Plengvidhya);Siriraj Research Grant for Research and Development,Faculty of Medicine Siriraj Hospital,Mahidol University,No.R015934015(to Tassanee Narkdontri and Watip Tangjittipokin);Thailand Research Fund grants,Nos.TRG5780113(to Watip Tangjittipokin),BRG5280008(to Nattachet Plengvidhya),and IRG5980006(to Pa-thai Yenchitsomanus)

摘　　要：BACKGROUND 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.CASE SUMMARY 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.CONCLUSION 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.BACKGROUND 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) 1 A 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.CASE SUMMARY 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 HNF1 A at codon 203 which changed amino acid from arginine to cysteine(R203 C). 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.CONCLUSION 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.

关 键 词：ORAL SULFONYLUREAS Maturity-onset diabetes of the YOUNG HNF1A Case report 

分 类 号：R[医药卫生]