ダウンロード数 : ?
ファイル
言語
英語
属性
Case report
著者
Purevjav, Enkhsaikhan
Fu, Xiaowei
Haneda, Noriyuki
木村 正彦
Takusa, Yuichi
Uchiyama, Atsushi
山口 清次
内容記述(抄録等)
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective responses of renal and extrarenal arginine-vasopressin V2 receptors (AVPR2).
This is caused by mutations in the AVPR2 gene located in chromosome region Xq28. We experienced a 35-year-old male patient with NDI accompanied by severe congenital heart disease (CHD), double-outlet right ventricle (DORV), ventricular septal defect and pulmonary hypertension, as well as mental retardation. DORV is a rare CHD, and patients with such a CHD often die during childhood without surgical treatment. There have been no reports of NDI accompanied with such a severe CHD. We observed clinically and performed a genetic analysis on this patient. A missense mutation (R202C) in the AVPR2 gene from the patient was identified. One of the reasons why this patient has been able to survive so long without surgical intervention may be the reduced cardiac preload due to polyuria of NDI as well as diuretics used.
掲載誌名
Shimane journal of medical science
20
1
開始ページ
19
終了ページ
23
ISSN
03865959
ISSN(Online)
24332410
発行日
2002-06-01
NCID
AA00841586
出版者別表記
Shimane Medical University
資料タイプ
紀要論文
ファイル形式
PDF
著者版/出版社版
出版社版
部局
医学部
備考
http://ci.nii.ac.jp/vol_issue/nels/AA00841586_jp.html
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