Art

J-GLOBAL ID：201602216644447286   Reference number：16A0946015

Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1

常染色体優性1型低カルシウム血症における低カリウム血症の病因

Author (11)： Kamiyoshi Naohiro (Kobe University Graduate School of Medicine) ,  Nozu Kandai (Kobe University Graduate School of Medicine) ,  Urahama Yoshimichi (Komaki City Hospital) ,  Matsunoshita Natsuki (Kobe University Graduate School of Medicine) ,  Yamamura Tomohiko (Kobe University Graduate School of Medicine) ,  Minamikawa Shogo (Kobe University Graduate School of Medicine) ,  Ninchoji Takeshi (Kobe University Graduate School of Medicine) ,  Morisada Naoya (Kobe University Graduate School of Medicine) ,  Nakanishi Koichi (Wakayama Medical College) ,  Kaito Hiroshi (Kobe University Graduate School of Medicine) ,  Iijima Kazumoto (Kobe University Graduate School of Medicine)
Material： Clinical and Experimental Nephrology  (Clin Exp Nephrol)
Volume： 20  Issue： 2  Page： 253-257  Publication year： Apr. 2016 
JST Material Number： L3173A  ISSN： 1342-1751  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *Hypocalcemia ,...
Semi thesaurus term： genetic variation ,...

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Author keywords (4)： Calcium-sensing receptor ,  Hypocalcemia ,  Hypoparathyroidism ,  Na+-Cl- cotransporter

JST classification (3)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Transport of cell membrane  (EF04020R)

Substance index (2)： Thiazide ,  Furosemide

Reference (11)：

• Ferre S, Hoenderop JG, Bindels RJ. Sensing mechanisms involved in Ca2+ and Mg2+ homeostasis. Kidney Int. 2012;82(11):1157-66.
• Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaitre X, Paillard M, Planelles G, Dechaux M, Miller RT, Antignac C. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol. 2002;13(9):2259-66.
• Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T. Association between activating mutations of calcium-sensing receptor and Bartter’s syndrome. Lancet. 2002;360(9334):692-4.
• Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, Kaito H, Hashimura Y, Ninchoji T, Komatsu H, et al. The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. J Clin Endocrinol Metab. 2010;95(12):E511-8.
• Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T. Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab. 1998;83(7):2497-502.

Terms in the title (5)： 常染色体 ,  優性 ,  低カルシウム血症 ,  低カリウム血症 ,  病因