Renal phosphate handling in Gitelman syndrome-the results of a case-control study

Cristina Viganò, Chiara Amoruso, Francesco Barretta, Giuseppe Minnici, Walter Albisetti, Marie Louise Syrèn, Mario G. Bianchetti, Alberto Bettinelli

Research output: Contribution to journalArticle

Abstract

Background: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule. Since the bulk of filtered phosphate is reabsorbed in the proximal tubule, renal phosphate wasting is considered exceptional in Gitelman syndrome. Methods: We investigated the renal handling of inorganic phosphate in 12 unselected Italian patients affected with Gitelman syndrome (5 females and 7 males, aged 6.0-18 years, median age 12 years) and in 12 healthy subjects matched for gender and age (controls). The diagnosis of Gitelman syndrome among the patients had been made clinically and confirmed by molecular biology studies. Results: The biochemical hallmarks of Gitelman syndrome, namely hypochloremia, hypokalemia, hypomagnesemia, increased urinary excretion of sodium, chloride, potassium and magnesium and reduced urinary excretion of calcium, were present in the 12 patients. In addition, both the plasma inorganic phosphate concentration (median and interquartile range: 1.28 [1.12-1.36] vs. 1.61 [1.51-1.66)] mmol/L) and the maximal tubular reabsorption of inorganic phosphate (1.08 [0.99-1.22] vs. 1.41 [1.38-1.47] mmol/L) were significantly lower (P

Original languageEnglish
Pages (from-to)65-70
Number of pages6
JournalPediatric Nephrology
Volume28
Issue number1
DOIs
Publication statusPublished - Jan 2013

Keywords

  • Gitelman syndrome
  • Hypokalemia
  • Hypomagnesemia
  • Hypophosphatemia
  • Renal phosphate wasting

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

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    Viganò, C., Amoruso, C., Barretta, F., Minnici, G., Albisetti, W., Syrèn, M. L., Bianchetti, M. G., & Bettinelli, A. (2013). Renal phosphate handling in Gitelman syndrome-the results of a case-control study. Pediatric Nephrology, 28(1), 65-70. https://doi.org/10.1007/s00467-012-2297-3