AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

摘要

Background Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin-neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.