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

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Title: Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations
Authors: Namatame-Ohta, Noriko Browse this author
Morikawa, Shuntaro Browse this author
Nakamura, Akie Browse this author
Matsuo, Kumihiro Browse this author
Nakajima, Masahide Browse this author
Tomizawa, Kazuhiro Browse this author
Tanahashi, Yusuke Browse this author
Tajima, Toshihiro Browse this author →KAKEN DB
Issue Date: 3-Jul-2018
Publisher: Hindawi Publishing Corporation
Journal Title: Case reports in pediatrics
Volume: 2018
Start Page: 6561952
Publisher DOI: 10.1155/2018/6561952
Abstract: 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.
Rights: http://creativecommons.org/licenses/by/4.0/
Type: article
URI: http://hdl.handle.net/2115/71645
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 生田目 紀子

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