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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  mutations in 13 patients with NDI, including 3 novel  AQP2  mutations (p.G165D, p.Q255RfsTer72 and IVS3-3delC). Missense mutations were the most common mutation type, followed by splicing mutations, and frameshift mutations caused by small deletion or insertion. The onset-age in our patients was younger than 1 year old. Common manifestations included polydipsia, polyuria (7/7) and intermittent fever (6/7). Less common presentations included short stature (3/7) and mental impairment (1/7). High osmotic hypernatremia and low osmotic urine were the main biochemical features. Dilation of the urinary tract was a common complication of NDI (3/6). Level of serum sodium in NDI patients with compound het AQP2 mutations was higher than non-compound het mutations.    Conclusion  In the first and largest case series of NDI caused by  AQP2  mutation in Chinese population, we identified 9  AQP2  mutations, including 3 novel mutations. Phenotype was found to correlate with genotypes, revealed by higher level of serum sodium in patients with compound het  AQP2  mutations than non-compound het mutations. This knowledge broadens genotypic and phenotypic spectrum for rare congenital NDI and provided basis for studying molecular biology of AQP2.

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