Congenital renal diabetes insipidus caused by aquaporin 2 gene mutation in siblings: 2 cases report and literature review
10.3760/cma.j.cn101721-20221028-000501
- VernacularTitle:同胞姐妹水通道蛋白2基因突变致先天性肾性尿崩症2例并文献复习
- Author:
Qianqian GUO
1
;
Chaoxia ZHU
;
Kailin LIU
;
Huifang PENG
;
Chun LI
;
Hongwei JIANG
;
Liping LI
Author Information
1. 河南科技大学临床医学院 河南科技大学第一附属医院内分泌代谢科，洛阳 471003
- Keywords:
Congenital nephrogenic diabetes insipidus;
Arginine vasopressin type receptor;
Aquaporin-2 gene;
Autosomal recessive inheritance
- From:
Clinical Medicine of China
2023;39(1):44-50
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To improve clinicians' understanding of congenital nephrogenital diabetes insipidus (CNDI) and to reduce missed and misdiagnosis. Methords Based on the literature, the clinical data and gene mutation of 2 patients with CNDI who were admitted to the Department of Endocrinology and Metabolism of the First Affiliated Hospital of Henan University of Science and Technology on July 30, 2020 were analyzed retrospectively. Results:(1) The presentee, 4 years old, had irritable thirst, polydipsia and polyuria for more than 3 years. The sister, 2.5 years old, had irritable thirst, polydipsia and polyuria for more than 2 years. The clinical diagnosis was “CNDI”, and the symptoms improved after treatment with hydrochlorothiazide. (2) The genetic test revealed that the congenital nephrogenic uremia and her sister had a heterozygous mutation of c.170A>C (p.Q57P) and c.211G>A (p.Vl71M) in the aquaporin-2 gene, and the mother carried the AQP2 gene. c.170A>C(p.Q57P) mutation.Conclusion:CNDI is a rare disease. Early diagnosis and treatment can improve the prognosis of patients to the greatest extent, and prenatal diagnosis can guide eugenics.
