A Novel Initial Codon Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene in a Japanese Patient with Gitelman's Syndrome

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著者

    • AOKI KAZUTAKA
    • Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine
    • YABUSHITA YASUHIRO
    • Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine
    • NAKAMURA AKINOBU
    • Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine
    • NEZU URU
    • Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine
    • TAKAHASHI MAYUMI
    • Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine
    • KIMURA MARI
    • Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine
    • TERAUCHI YASUO
    • Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine

抄録

We here report a novel mutation of the thiazide-sensitive Na-Cl cotransporter (TSC) (SLC12A3) gene in a Japanese patient with Gitelman's syndrome (GS). GS is characterized by a renal disorder and is associated with hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria arising from the defective tubular reabsorption of magnesium and potassium. This disease is reportedly caused by mutations in the TSC gene. A 52-year-old man was referred to our hospital because of sleeplessness and tinnitus. He exhibited hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hyperreninemic hyperaldosteronism. A renal clearance study revealed that the administration of furosemide decreased chloride reabsorption; however, the ingestion of thiazide failed to decrease chloride reabsorption. A diagnosis of GS was made based on the clinical features, laboratory data and renal function test results. Sequencing of the patient's genomic DNA revealed an A to T transition at the initial codon of exon 1 of the TSC gene (c1A>T). Knowledge of this novel mutation may be helpful for understanding the pathophysiology of GS and the function of TSC as well as for providing genetic counseling.<br>

収録刊行物

  • Endocrine journal  

    Endocrine journal 55(3), 557-560, 2008-06-01 

    The Japan Endocrine Society

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キーワード

各種コード

  • NII論文ID(NAID)
    10021266565
  • NII書誌ID(NCID)
    AA10901436
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    09188959
  • データ提供元
    CJP書誌  CJP引用  J-STAGE 
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