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

• Asıl Yazarlar: Noriko Namatame-Ohta (Yazar), Shuntaro Morikawa (Yazar), Akie Nakamura (Yazar), Kumihiro Matsuo (Yazar), Masahide Nakajima (Yazar), Kazuhiro Tomizawa (Yazar), Yusuke Tanahashi (Yazar), Toshihiro Tajima (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Hindawi Limited, 2018-01-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...