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File
language
eng
Attribute
Case report
Author
Purevjav, Enkhsaikhan
Fu, Xiaowei
Haneda, Noriyuki
Kimura, Masahiko
Takusa, Yuichi
Uchiyama, Atsushi
Yamaguchi, Seiji
Description
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.
Journal Title
Shimane journal of medical science
Volume
20
Issue
1
Start Page
19
End Page
23
ISSN
03865959
ISSN(Online)
24332410
Published Date
2002-06-01
NCID
AA00841586
Publisher Aalternative
Shimane Medical University
NII Type
Departmental Bulletin Paper
Format
PDF
Text Version
出版社版
OAI-PMH Set
Faculty of Medicine
Remark
http://ci.nii.ac.jp/vol_issue/nels/AA00841586_jp.html
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