HNF1B型
青少年成熟型糖尿病
HNF1A型
糖尿病
突变
2型糖尿病
疾病
医学
遗传学
表型
2型糖尿病
基因
内分泌学
生物
内科学
基因表达
同源盒
作者
Juan Camilo Mateus,Carolina Rivera,Miguel Augusto O ́Meara,Álex Valenzuela,Fernando Lizcano
标识
DOI:10.1186/s40842-020-00103-6
摘要
Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the hnf4a, gck, and hnf1a genes. However, other MODY variants can cause multiple alterations in the embryonic development of the endoderm. This is the case in patients presenting with MODY5, who have a mutation of the hepatic nuclear factor 1B (hnf1b) gene.We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the hnf1b gene.MODY5 is characterised by a mutation in the hnf1b gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes.
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