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

• Үндсэн зохиолчид: Noriko Namatame-Ohta (Зохиогч), Shuntaro Morikawa (Зохиогч), Akie Nakamura (Зохиогч), Kumihiro Matsuo (Зохиогч), Masahide Nakajima (Зохиогч), Kazuhiro Tomizawa (Зохиогч), Yusuke Tanahashi (Зохиогч), Toshihiro Tajima (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Hindawi Limited, 2018-01-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...