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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Hypokalaemia and failure to thrive: Report of a misleading onset
Journal of Paediatrics and Child Health, Volume 46, No. 5, Year 2010
Notification
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Description
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. © 2010 Paediatrics and Child Health Division (Royal Australasian College of Physicians).
Authors & Co-Authors
Conti, Giovanni
South Africa, Messina
University of Messina
Vitale, Agata
South Africa, Messina
University of Messina
Tedeschi, Silvana
United States
Fondazione Irccs Policlinico
Syrén, Marie Louise
Italy, Milan
Università Degli Studi Di Milano
Pantano, Roberta
South Africa, Messina
University of Messina
Chimenz, Roberto R.
South Africa, Messina
University of Messina
Fede, Salvatore
South Africa, Messina
University of Messina
La Torre, Francesco
South Africa, Messina
University of Messina
Coviello, Domenico A.
United States
Fondazione Irccs Policlinico
Fede, Carmelo
South Africa, Messina
University of Messina
Statistics
Citations: 10
Authors: 10
Affiliations: 3
Identifiers
Doi:
10.1111/j.1440-1754.2009.01684.x
e-ISSN:
14401754
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cohort Study
Participants Gender
Female