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

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タイトル: Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations
著者: Namatame-Ohta, Noriko 著作を一覧する
Morikawa, Shuntaro 著作を一覧する
Nakamura, Akie 著作を一覧する
Matsuo, Kumihiro 著作を一覧する
Nakajima, Masahide 著作を一覧する
Tomizawa, Kazuhiro 著作を一覧する
Tanahashi, Yusuke 著作を一覧する
Tajima, Toshihiro 著作を一覧する
発行日: 2018年 7月 3日
出版者: Hindawi Publishing Corporation
誌名: Case reports in pediatrics
巻: 2018
開始ページ: 6561952
出版社 DOI: 10.1155/2018/6561952
抄録: 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 the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age. Analysis of AVPR2 identified two nonsense mutations (c.299_300insA; p.K100KfsX91 and c.296G > A; p.W99X) and one missense mutation (c.316C > T; p.R106C). These mutations were previously reported. The patient with c.316C > T; p.R106C had milder symptoms consistent with previous reports. Of the familial cases, the sister was diagnosed as having NDI, but a skewed X-inactivation pattern in her peripheral blood lymphocytes was not identified. In conclusion, our study expands the spectrum of phenotypes and characterized mutations in AVPR2 in NDI.
資料タイプ: article
URI: http://hdl.handle.net/2115/71645
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 生田目 紀子

 

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