A thiazide test for the diagnosis of renal tubular hypokalemic disorders

Giacomo Colussi, Alberto Bettinelli, Silvana Tedeschi, Maria Elisabetta De Ferrari, Marie Louise Syrén, Nicolò Borsa, Camilla Mattiello, Giorgio Casari, Mario Giovanni Bianchetti

Research output: Contribution to journalArticlepeer-review

Abstract

Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation of genetic testing for these disorders is still hampered by several difficulties, induding large gene dimensions, lack of hot-spot mutations, heavy workup time, and costs. This study evaluated in a cohort of patients with genetically proven GS or BS diagnostic sensibility and specificity of a diuretic test with oral hydrochlorothiazide (HCT test). Forty-one patients with GS (22 adults, aged 25 to 57; 19 children-adolescents, aged 7 to 17) and seven patients with BS (five type I, two type III) were studied; three patients with "pseudo-BS" from surreptitious diuretic intake (two patients) or vomiting (one patient) were also included. HCT test consisted of the administration of 50 mg of HCT orally (1 mg/kg in children-adolescents) and measurement of the maximal diuretic-induced increase over basal in the subsequent 3 h of chloride fractional clearance. All but three patients with GS but no patients with BS and pseudo-BS showed blunted (

Original languageEnglish
Pages (from-to)454-460
Number of pages7
JournalClinical Journal of the American Society of Nephrology
Volume2
Issue number3
DOIs
Publication statusPublished - May 2007

ASJC Scopus subject areas

  • Medicine(all)
  • Critical Care and Intensive Care Medicine
  • Epidemiology
  • Nephrology
  • Transplantation

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