A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus

Abstract

Congenital nephrogenic diabetes insipidus (NDI) is a rare hereditary disease characterized by excessive diuresis and compensatory polydipsia. No causal treatment of hereditary NDI exists, leaving the patient with severe symptoms, impaired quality of life, and at risk of mental impairment due to recurrent dehydration episodes in childhood. In ~90% of cases, NDI is caused by sequence variants in the AVPR2 gene. This gene is located on the X-chromosome and encodes the vasopressin V2 receptor1,2 (V2R).