Early appearance of hypokalemia in Gitelman syndrome

Fabiana Tammaro, Alberto Bettinelli, Donatella Cattarelli, Alessandra Cavazza, Carla Colombo, Marie Louise Syrén, Silvana Tedeschi, Mario G. Bianchetti

Research output: Contribution to journalArticlepeer-review


Inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive co-transporter causes Gitelman syndrome. The main features of this syndrome include normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and hyperreninemia. These patients are at low risk for preterm birth and do not present with symptoms before school age. As a consequence, the condition is usually diagnosed in late childhood or in adult life. We report on four patients, two pairs of prematurely born twins, in whom hypokalemia was demonstrated early in life. In these children, a tendency towards hypokalemia was first noted during the third week of life. Overt hypokalemia subsequently appeared associated with normal blood pressure, hypochloremia, hyperreninemia, and an inappropriately high fractional excretion of potassium and chloride. Molecular biology studies failed to detect mutations in the SLC12A1, KCNJ1, and CLCNKB genes responsible for the Bartter syndromes type I, II and III, respectively. Compound heterozygous mutations in the SLC12A3 gene were detected in both pairs of twins: a frameshift mutation in exon 10 (c.1196-1202dup7bp), leading to the truncated protein p.Ser402X, and a missense mutation in exon 11, p.Ser475Cys (c.1424C>G) in the first pair; two missense mutations, p.Thr392Ile (c.1175C>T) in exon 9 and p.Ser615Leu in exon 15 (c.1844C>T), in the second pair. In conclusion, the diagnosis of Gitelman syndrome deserves consideration in infants with unexplained hypokalemia.

Original languageEnglish
Pages (from-to)2179-2182
Number of pages4
JournalPediatric Nephrology
Issue number10
Publication statusPublished - Oct 2010


  • Bartter syndrome
  • Gitelman syndrome
  • Hypokalemia
  • Hypomagnesemia
  • Preterm neonate

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health


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