Article
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.
The Journal of clinical endocrinology and metabolism - 1 Jun 2002
Lin Shih-Hua, Bichet Daniel G, Sasaki Sei, Kuwahara Michio, Arthus Marie-Francoise, Lonergan Michele, Lin Yuh-Feng
Abstract excerpt
Mutations in the aquaporin-2 gene (AQP2), encoding the vasopressin-regulated water channel of the renal collecting duct, are responsible for the autosomal recessive or dominant forms of congenital nephrogenic diabetes insipidus. We describe two new families with normal hypotensive and coagulation responses following the administration of desamino-8-D-arginine AVP, a clinical suggestion of normal vasopressin-2...
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