Department of Pediatric Endocrinology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
Pediatr Diabetes. 2012 Mar;13(2):e1-5. doi: 10.1111/j.1399-5448.2011.00773.x. Epub 2011 Jul 19.
A small-for-gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin-requiring, non-autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal-development of pancreas. Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). This is the first case of HNF1B-MODY reported from Turkey and represents a particularly severe phenotype of the disease.
一名胎龄小的女性婴儿在 3 个月大时被诊断出双侧发育不良的肾脏。她发展为慢性肾功能不全。6 岁时被诊断出需要胰岛素治疗的非自身免疫性糖尿病。她的肝脏有轻度脂肪变性和铁沉积，胰腺发育不良。基因研究显示 HNF1B 基因存在杂合突变（S148L），符合 HNF1B-MODY 表型（MODY5）。这是土耳其首例报道的 HNF1B-MODY 病例，代表了该疾病的一种特别严重的表型。
