Nephrol Dial Transplant (2003) 18: 1005-1008
© 2003 European Renal Association-European Dialysis and Transplant Association
Case Report
Novel thiazide-sensitive Na–Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis
1 Division of Nephrology, Department of Medicine and 2 Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei and 3 Department of Biochemistry, National Defense Medical Center, Taipei, Taiwan
Keywords: Gitelman's syndrome; hypocalciuria; hypokalaemia; mutation; paralysis
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Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder characterized by hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria [1]. The electrolyte disturbances resemble those observed in chronic administration of thiazide diuretics. GS usually results from inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na+–Cl- cotransporter (NCCT) on the apical membrane of distal convoluted tubule (DCT) cells [2,3]. Loss of NCCT function leads to decreased Na+ and Cl- reabsorption in the DCT.
The initial clinical presentation of GS includes transient episodes of muscle weakness and tetany, usually in children or young adults [4]. Some patients are completely asymptomatic. Although the neuromuscular manifestations are common and the hypomagnesaemia present in GS can also precipitate neuromuscular symptoms, to the best of our knowledge, profound hypokalaemia complicated by paralysis is rarely seen as the presenting feature in patients with GS [5]. With
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