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Vol.56 No.2 >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/131

Title: NEPHROGENIC DIABETES INSIPIDUS WITH A V2 RECEPTOR MUTATION AT A FUNCTIONALLY CRITICAL SITE
Authors: Nishikubo, Toshiya
Kisato, Yoriko
Ishikawa, Naoko
Kuwahara, Isao
Kamitsuji, Hidekazu
Yoshizato, Kazuaki
Araki, Eiichi
Keywords: infant
nephrogenic diabetes
insipidus
vasopressin type 2 receptor gene mutation
Issue Date: 30-Apr-2005
Publisher: 奈良医学会
奈良県立医科大学
Citation: Journal of Nara Medical Association Vol.56 No.2 p.97-103
Abstract: We present an infant with congenital nephrogenic diabetes insipidus with a V2 receptor mutation. The infant was admitted to our hospital because of high fever 7 days after birth. Laboratory examinations demonstrated elevated serum sodium (152 mEq/L) and chloride (113mEq/L) concentrations. Plasma osmolarity was increased to 312 mOsm/kg, even though urinary osmolarity was 76 mOsm/kg. Serum AVP concentration was markedly increased. Pitressin-loading test did not show marked increment in the urinary osmolarity or secretion of urinary cyclic-AMP. Therefore, the patient was clinically diagnosed as having nephrogenic diabetes insipidus. DNA analysis of the V2 receptor gene identified a C to A transition at nucleotide position 1503. This mutation leads to a predictable change from Proline to Histidine. The patient was fed a sodium-restricted formula and administered trichlormethiazide. After initiating treatment, the serum concentration of Na was maintained below 150 mEq/L, and there was no physical dysfunction or mental retardation. Early diagnosis followed by early interventions was important to improve the prognosis.
URI: http://hdl.handle.net/10564/131
ISSN: 13450069
Appears in Collections:Vol.56 No.2

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