A case of Gitelman's syndrome with decreased angiotensin II-forming activity.
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.
Eto
Kimika
K
Division of Hypertension, Clinical Research Center, National Kyushu Medical Center, Fukuoka, Japan. kimika@qmed.hosp.go.jp
Onaka
Uran
U
Tsuchihashi
Takuya
T
Hirano
Takashi
T
Nakayama
Masaru
M
Masutani
Kosuke
K
Hirakata
Hideki
H
Urata
Hidenori
H
Yasujima
Minoru
M
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
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