由一种新型AVPR2突变导致的肾性尿崩症。
Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
作者信息
Sakallioglu Onur, Tascilar Mehmet Emre, Kalman Suleyman, Cheong Hae Il, Atay Abdullah Avni
机构信息
Department ofPediatrics, Gulhane Military Academy ofMedicine, Etlik Ankara, Turkey.
出版信息
J Pediatr Endocrinol Metab. 2009 Feb;22(2):187-9. doi: 10.1515/jpem.2009.22.2.187.
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.
先天性肾性尿崩症（CNDI）是一种罕见的遗传性疾病，其特征是由于两种分子——血管加压素V2受体（AVPR2）和水通道蛋白-2水通道的突变，导致肾小管对精氨酸加压素的抗利尿作用无反应。我们报告了一名患有骨骼异常的18个月大土耳其男孩中一种新的AVPR2突变。
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