Iwabuchi Atsushi, Kamoda Tomohiro, Shinohara Hiroyuki, Sumazaki Ryo
Department of Pediatrics, University of Tsukuba, Ibaraki, Japan.
Pediatr Int. 2013 Apr;55(2):e32-4. doi: 10.1111/j.1442-200X.2012.03741.x.
Maturity-onset diabetes of the young type 3 (MODY3) is caused by hepatocyte nuclear factor 1α gene mutation and is clinically characterized by young onset and insufficient insulin secretion. We report a 19-month-old Japanese boy with a family history of young-onset diabetes who was initially diagnosed with type 1 diabetes. Mutational analysis of the hepatocyte nuclear factor 1α gene revealed a novel heterozygous frameshift mutation (c.593delA p.Lys198fs) resulting in a truncated protein in the patient and his father. The patient was diagnosed as having MODY3 and was successfully treated with insulin glargine. We could not determine the genetic or environmental factors to explain the difference in the age of disease onset within the same family. This is the youngest case of a MODY3 child presenting with overt diabetes. Our experience suggests that clinicians should always consider the possible diagnosis of MODY3 in a diabetic child with a family history of young-onset diabetes and should perform molecular investigations.
青少年发病的成年型糖尿病3型（MODY3）由肝细胞核因子1α基因突变引起，临床特征为发病年龄较轻且胰岛素分泌不足。我们报告一名19个月大的日本男孩，他有青少年发病型糖尿病家族史，最初被诊断为1型糖尿病。对肝细胞核因子1α基因的突变分析发现了一种新的杂合移码突变（c.593delA p.Lys198fs），该突变导致患者及其父亲的蛋白质截短。该患者被诊断为MODY3，并使用甘精胰岛素成功治疗。我们无法确定解释同一家族中疾病发病年龄差异的遗传或环境因素。这是出现明显糖尿病症状的最年幼的MODY3患儿病例。我们的经验表明，临床医生对于有青少年发病型糖尿病家族史的糖尿病患儿应始终考虑MODY3的可能诊断，并应进行分子检查。
