Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

• Main Authors: Noriko Namatame-Ohta (Author), Shuntaro Morikawa (Author), Akie Nakamura (Author), Kumihiro Matsuo (Author), Masahide Nakajima (Author), Kazuhiro Tomizawa (Author), Yusuke Tanahashi (Author), Toshihiro Tajima (Author)
• Format: Book
• Published: Hindawi Limited, 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of t...