Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

2015 ◽  
Vol 174 (10) ◽  
pp. 1373-1385 ◽  
Author(s):  
Alejandro García Castaño ◽  
◽  
Gustavo Pérez de Nanclares ◽  
Leire Madariaga ◽  
Mireia Aguirre ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Genetic Study ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Clinical Genetic

scholarly journals Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

2005 ◽  
Vol 20 (6) ◽  
pp. 1076 ◽  
Author(s):  
Hae Il Cheong ◽  
Su Jin Cho ◽  
Shou Huan Zheng ◽  
Hee Yeon Cho ◽  
Il Soo Ha ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study

2014 ◽  
Vol 27 (1-2) ◽  
Author(s):  
Che Ry Hong ◽  
Hee Gyung Kang ◽  
Hyun Jin Choi ◽  
Min Hyun Cho ◽  
Jung Won Lee ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Genetic Study ◽  
Nephrogenic Diabetes Insipidus

scholarly journals SP011CHARACTERIZATION OF NOVEL MUTATIONS IN ARGININE VASOPRESSIN RECEPTOR 2 GENE (AVRP2) CAUSING NEPHROGENIC DIABETES INSIPIDUS

2018 ◽  
Vol 33 (suppl_1) ◽  
pp. i350-i351
Author(s):  
Federica Prosperi ◽  
Vincenzo Costanzo ◽  
Anna Iervolino ◽  
Federica Petrillo ◽  
Luigi De la Motte ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Vasopressin Receptor ◽  
Novel Mutations

scholarly journals Novel mutations underlying nephrogenic diabetes insipidus in Arab families

2006 ◽  
Vol 8 (7) ◽  
pp. 443-447 ◽  
Author(s):  
Pamela Carroll ◽  
Hamad Al-Mojalli ◽  
Abbas Al-Abbad ◽  
Ibrahim Al-Hassoun ◽  
Mohamed Al-Hamed ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations

scholarly journals Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus

2021 ◽  
Vol 9 ◽  
Author(s):  
Panli Liao ◽  
Tianchao Xiang ◽  
Hongxia Li ◽  
Ye Fang ◽  
Xiaoyan Fang ◽  
...  
Keyword(s):  
Structural Analysis ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Isotonic Saline ◽  
Treatment Strategies ◽  
Clinical Genetic ◽  
Pathogenic Variants ◽  
Protein Structural Analysis

Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder characterized by renal inability to concentrate urine. We utilized a multicenter strategy to investigate the genotype and phenotype in a cohort of Chinese children clinically diagnosed with NDI from 2014 to 2019. Ten boys from nine families were identified with mutations in AVPR2 or AQP2 along with dehydration, polyuria–polydipsia, and severe hypernatremia. Genetic screening confirmed the diagnosis of seven additional relatives with partial or subclinical NDI. Protein structural analysis revealed a notable clustering of diagnostic mutations in the transmembrane region of AVPR2 and an enrichment of diagnostic mutations in the C-terminal region of AQP2. The pathogenic variants are significantly more likely to be located inside the domain compared with population variants. Through the structural analysis and in silico prediction, the eight mutations identified in this study were presumed to be disease-causing. The most common treatments were thiazide diuretics and non-steroidal anti-inflammatory drugs (NSAIDs). Emergency treatment for hypernatremia dehydration in neonates should not use isotonic saline as a rehydration fluid. Genetic analysis presumably confirmed the diagnosis of NDI in each patient in our study. We outlined methods for the early identification of NDI through phenotype and genotype, and outlined optimized treatment strategies.

Sign in / Sign up

Export Citation Format

Share Document