title: A case of Gitelman's syndrome with decreased angiotensin II-forming activity.
abstract: Gitelman's syndrome (GS) is a variant of Bartter's syndrome (BS) characterized by hypokalemic alkalosis, hypomagnesemia, hypocalciuria and secondary aldosteronism without hypertension. A 31-year-old Japanese man who had suffered from mild hypokalemia for 10 years was admitted to our hospital. He had metabolic alkalosis, hypokalemia and hypocalciuria. Since he had two missense mutations (R261C and L623P) in the thiazide-sensitive Na-Cl cotransporter (TSC) gene (SLC12A3), he was diagnosed as having GS. He showed hyperreninism and a high angiotensin I (Ang I) level, whereas his angiotensin II (Ang II) and aldosterone levels were not elevated. His angiotensin converting enzyme (ACE) activities were normal, and administration of captopril inhibited the production of Ang II and aldosterone. We evaluated the Ang II-forming activity (AIIFA) of other enzymes in his lymphocytes. Interestingly, chymase-dependent AIIFA was not detected in the lymphocytes. Together, these results suggest that the lack of chymase activity resulted in the manifestation of GS without hyperaldosteronism.
authors.affiliation: Division of Hypertension, Clinical Research Center, National Kyushu Medical Center, Fukuoka, Japan. kimika@qmed.hosp.go.jp
authors.forename: Kimika
authors.initials: K
authors.lastname: Eto
authors.forename: Uran
authors.initials: U
authors.lastname: Onaka
authors.forename: Takuya
authors.initials: T
authors.lastname: Tsuchihashi
authors.forename: Takashi
authors.initials: T
authors.lastname: Hirano
authors.forename: Masaru
authors.initials: M
authors.lastname: Nakayama
authors.forename: Kosuke
authors.initials: K
authors.lastname: Masutani
authors.forename: Hideki
authors.initials: H
authors.lastname: Hirakata
authors.forename: Hidenori
authors.initials: H
authors.lastname: Urata
authors.forename: Minoru
authors.initials: M
authors.lastname: Yasujima
mesh_terms: D000328:Adult; D000803:Angiotensin I / Q000097:blood; D000804:Angiotensin II / Q000096:biosynthesis* / Q000097:blood; D001477:Bartter Syndrome / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D005921:Glomerulonephritis / Q000150:complications; D006801:Humans; D006929:Hyperaldosteronism / Q000097:blood; D007962:Leukocytes / Q000378:metabolism; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D011955:Receptors, Drug / Q000235:genetics; D012083:Renin / Q000097:blood; D012084:Renin-Angiotensin System / Q000502:physiology; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics
chemical_list: D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; D000804:Angiotensin II; D004247:DNA; D000803:Angiotensin I; D012083:Renin