先天性肾性尿崩症的研究进展  

Research progress of congenital nephrotic diabetes insipidus

作　　者：刘竹枫[1] 张碧丽[1] LIU Zhu-feng;ZHANG Bi-li(Department of Nephrology, Tianjin Children’s Hospital, Tianjin 300134, China)

机构地区：[1]天津市儿童医院肾内科

出　　处：《天津医药》2019年第8期891-896,共6页Tianjin Medical Journal

摘　　要：先天性肾性尿崩症是一组遗传异质性单基因疾病,约占所有肾性尿崩症的10%。主要是由于肾脏对垂体后叶分泌的精氨加压素失去反应导致尿液浓缩功能障碍,患者以排出大量低比重尿、引起脱水、烦渴、继发性多饮为特点。约90%的患者遗传方式为X连锁隐性遗传,而约10%的患者为常染色体显性或隐性遗传。近年来,其遗传及分子机制逐渐被阐明,也产生了针对病因的多靶点的治疗手段和潜在的治疗策略,本文对先天性肾性尿崩症的研究现状作一综述。Congenital nephrotic diabetes insipidus is a group of genetically heterogeneous single gene diseases, accounting for about 10% of all nephrotic diabetes insipidus. The main reason is that the kidney loses its response to arginine vasopressin secreted by the posterior pituitary gland, which results in dysfunction of urine concentration. Patients are characterized by excretion of large amounts of low specific gravity urine, dehydration, thirst and secondary polydipsia. X- linked recessive inheritance accounts for about 90% of patients. About 10% of patients are autosomal dominant or recessive inheritance. In recent years, its genetic and molecular mechanisms have been gradually elucidated, and multiple target therapies and potential therapeutic strategies for the etiology have also emerged. This article reviews the research status of congenital nephrotic diabetes insipidus.

关 键 词：尿崩症 肾性 血管升压素类 水通道蛋白质2 综述 

分 类 号：R725.9[医药卫生—儿科]