Art

J-GLOBAL ID：200902206926227784   Reference number：09A1213824

Psedohypoaldosteronism type 1

偽性低アルドステロン症I型

Author (5)： KANDA KYOKO (神戸大 病院 小児科) ,  NOZU KANDAI (神戸大 病院 小児科) ,  HASHIMURA YUYA (神戸大 病院 小児科) ,  IIJIMA KAZUMOTO (神戸大 病院 小児科) ,  MATSUO MASAFUMI (神戸大 病院 小児科)
Material： 日本小児腎臓病学会雑誌  (Japanese Journal of Pediatric Nephrology)
Volume： 22  Issue： 2  Page： 123-125  Publication year： Nov. 15, 2009 
JST Material Number： L0515A  ISSN： 0915-2245  Document type： Article
Article type： 解説  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human ,...
Semi thesaurus term： 塩分補充療法 ,...

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JST classification (1)： Pediatrics in general.  (GC08010B)

Reference (11)：

• CHEEK, Donald B. A Salt Wasting Syndrome in Infancy Arch. Dis. Child. 1958, 33, 252-256
• HANUKOGLU, A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991, 73, 936-944
• GELLER, DS. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998, 19, 279-281
• CHANG, SS. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet. 1996, 12, 248-253
• VIEMANN, M. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1 : identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J Clin Endocrinol Metab. 2001, 86, 2056-2059

Terms in the title (1)： 偽性低アルドステロン症