NSIAD

同

nephrogenic syndrome of inappropriate antidiuresis

English Journal

• Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).

• Armstrong SP, Seeber RM, Ayoub MA, Feldman BJ, Pfleger KD.SourceLaboratory for Molecular Endocrinology-G Protein-Coupled Receptors, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Perth, Western Australia, Australia.
• PloS one.PLoS One.2013 Jun 6;8(6):e65885. doi: 10.1371/journal.pone.0065885. Print 2013.
• Arginine vasopressin (AVP) is released from the posterior pituitary and controls water homeostasis. AVP binding to vasopressin V2 receptors (V2Rs) located on kidney collecting duct epithelial cells triggers activation of Gs proteins, leading to increased cAMP levels, trafficking of aquaporin-2 water
• PMID 23762448

• Identification and characterization of an activating F229V substitution in the V2 vasopressin receptor in an infant with NSIAD.

• Carpentier E, Greenbaum LA, Rochdi D, Abrol R, Goddard WA 3rd, Bichet DG, Bouvier M.SourceInstitute for Research in Immunology and Cancer, Université de Montréal, C.P. 6128 Succursale Centre-Ville, Montréal, Québec, Canada.
• Journal of the American Society of Nephrology : JASN.J Am Soc Nephrol.2012 Oct;23(10):1635-40. Epub 2012 Sep 6.
• Gain-of-function mutations in the gene encoding the V2 vasopressin receptor (V2R) cause nephrogenic syndrome of inappropriate antidiuresis. To date, reported mutations lead to the substitution of arginine 137 by either a cysteine or leucine (R137C/L). Here, we describe a 3-month-old hyponatremic inf
• PMID 22956819

• A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.

• Bockenhauer D, Penney MD, Hampton D, van't Hoff W, Gullett A, Sailesh S, Bichet DG.SourceInstitute of Child Health, University College London and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom. d.bockenhauer@ucl.ac.uk
• American journal of kidney diseases : the official journal of the National Kidney Foundation.Am J Kidney Dis.2012 Apr;59(4):566-8. doi: 10.1053/j.ajkd.2011.09.026. Epub 2011 Dec 9.
• Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked disorder caused by activating mutations in arginine vasopressin receptor 2 (AVPR2), resulting in persistently concentrated urine. We report on a family affected by NSIAD with the known mutation R137C, an arginine to cysteine s
• PMID 22154540

Japanese Journal

• 低Na血症とSIAD (特集 見落としがちな内分泌疾患) -- (症候や検査値の異常から内分泌疾患をとらえる)

• 村瀬 孝司,大磯 ユタカ
• 綜合臨床 57(3), 492-496, 2008-03
• NAID 40015888205

• 海外論文紹介 : Nephrogenic Syndrome of Inappropriate Antidiuresis in Adults: High phenotypic variability in Men and Women from a Large Pedigree

• 粟津 緑
• 日本小児腎臓病学会雑誌 21(1), 72-73, 2008
• … 　Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) は遺伝性の低Na血症を来す疾患で, 男性乳児例が報告されている。 … 本論文はNSIADの原因遺伝子であるバソプレシン (AVP) のV2受容体 (AVPR2) の変異R137Cを有する5世代にわたる大家系の報告である。 … NSIADは男性, 女性成人にもみられることが示された。 … この著者らは, この病態をNSIADと呼ぶことを提唱している。 …
• NAID 130000077223