Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.

Abstract excerpt

Objective: Mutations in AQP2 (aquaporin-2) lead to rare congenital nephrogenic diabetes insipidus (NDI), which has been limitedly studied in Chinese population. Methods: Twenty-five subjects from seven families with NDI in a department (Beijing, PUMCH) were screened for AQP2 mutations. Clinical characteristics were described and genotype-phenotype correlation analysis was performed. Results: We identified 9 AQP2...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Age of Onset
• Share to Aquaporin 2
• Share to China