病例报告：以糖尿病酮症酸中毒为首发表现的 HNF1B 突变患者一例。
Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis.
机构信息
Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji-nan, China.
Cheeloo College of Medicine, Shandong University, Department of Endocrinology and Metabology, Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational medicine, Shandong Institute of Nephrology, Ji-nan, China.
出版信息
Front Endocrinol (Lausanne). 2022 Aug 5;13:917819. doi: 10.3389/fendo.2022.917819. eCollection 2022.
BACKGROUND
Maturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B () gene.
CASE PRESENTATION
We reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the score was estimated as 13 and a heterozygous variant of in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing.
CONCLUSIONS
Multiple renal cysts and youth-onset diabetes are common manifestations in patients with mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.
背景
年轻起病的成年型糖尿病 5 型（MODY5）是一种罕见的青年糖尿病综合征，与肝细胞核因子 1B（）基因突变有关。
病例介绍
我们报告了一例 MODY5 病例，该病例表现为糖尿病酮症酸中毒、多发性肾囊肿和低钾血症。在该病例中，评分估计为 13，通过 Sanger 测序发现外显子 4 中的杂合变异（c.826C>T，p.Arg276*）。
结论
多个肾囊肿和青年起病的糖尿病是 突变患者的常见表现，胰岛素分泌不足可能是 MODY5 中糖尿病酮症酸中毒的潜在原因。
Zotero 插件