Hypokalaemia and failure to thrive: Report of a misleading onset

Giovanni Conti, Agata Vitale, Silvana Tedeschi, Marie Louise Syrén, Roberta Pantano, Roberto Chimenz, Salvatore Fede, Francesco La Torre, Domenico Coviello, Carmelo Fede

Research output: Contribution to journalArticle

Abstract

Aim: We report a case of Gitelman Syndrome (GS) in a 9-year-old girl, previously diagnosed as a Bartter syndrome at one year of life. Methods: She had been treated with potassium, for over 8 years and was admitted because of fatigue, numbness and weakness of both legs. The patient has typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria, thus GS was suspected. Results: Genetic analysis was performed two mutations IVS9(+1)G>T were detected in the thiazide-sensitive Na-Cl cotransporter (TSC) gene (SLC12A3), thus she was diagnosed as having GS. She was treated with oral potassium and magnesium supplements with resolution of the symptoms. Conclusion: This case reminded us that doctors should be alert to the initial presentation of renal tubular diseases. Detailed electrolyte analysis, hormone evaluations and clinic follow-up are mandatory for their correct differential diagnosis.

Original languageEnglish
Pages (from-to)276-277
Number of pages2
JournalJournal of Paediatrics and Child Health
Volume46
Issue number5
DOIs
Publication statusPublished - 2010

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Keywords

  • Bartter's syndrome
  • Gitelman's syndrome
  • Hyperaldosteronism
  • Hypokalaemia
  • Hypomagnesaemia
  • Metabolic alkalosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Conti, G., Vitale, A., Tedeschi, S., Syrén, M. L., Pantano, R., Chimenz, R., Fede, S., La Torre, F., Coviello, D., & Fede, C. (2010). Hypokalaemia and failure to thrive: Report of a misleading onset. Journal of Paediatrics and Child Health, 46(5), 276-277. https://doi.org/10.1111/j.1440-1754.2009.01684.x