Hypertension in a patient with Gitelman's syndrome.
Gitelman's syndrome is an autosomal recessive disorder characterized by sodium wasting and hypotension. A middle-aged woman was diagnosed with Gitelman's syndrome because of typical clinical manifestations in the youth and homozygous mutations of 18-base-pair insertion in exon 6 of thiazide-sensitive NaCl-cotransporter gene. It was unusual that she showed hypertension with advancing age. Her serum potassium levels remained low at around 3.5 mEq/l despite potassium supplementation. This case demonstrates that hypertension could result in spite of the extremely decreased sodium reabsorption in Gitelman's syndrome and that essential hypertension is genetically heterogeneous, and abnormality of all genes may not be necessarily required to cause blood pressure rise.
Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Suita, Japan. ogihara@geriat.med.osaka-u.ac.jp
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Ogihara
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Katsuya
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Ishikawa
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Matsuo
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Rakugi
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Shoji
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Yasujima
D000328:Adult; D015415:Biomarkers / Q000097:blood; D001794:Blood Pressure / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D006973:Hypertension / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D007008:Hypokalemia / Q000378:metabolism; D007010:Hyponatremia / Q000378:metabolism; D007022:Hypotension / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation; D011188:Potassium / Q000008:administration & dosage / Q000097:blood*; D011955:Receptors, Drug / Q000235:genetics; D012964:Sodium / Q000378:metabolism; D049992:Sodium Chloride Symporters / Q000235:genetics; D013577:Syndrome
D015415:Biomarkers; D011955:Receptors, Drug; D049992:Sodium Chloride Symporters; C064415:thiazide receptor; D012964:Sodium; D011188:Potassium