Paediatrica Indonesiana
Vol 56 No 3 (2016): May 2016

Management of childhood Gitelman syndrome: a case study

Risky Vitria Prasetyo (Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java)
Putu Dian Saraswati (Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java)
Ninik Asmaningsih Soemyarso (Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java)
Mohammad Sjaifullah Noer (Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java)



Article Info

Publish Date
01 Jul 2016

Abstract

Gitelman syndrome is a rare, autosomal recessive, renal tubular salt wasting disorder characterized by hypokalemia, and metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria.1,2 The prevalence is estimated to be 1 in 40,000 individuals. The condition affects both males and females of all ethnic backgrounds. The prevalence of heterozygotes is approximately 1% in Caucasian populations.2,3In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Symptoms, such as transient episodes of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever, are often seen in Gitelman syndrome patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance of chondrocalcinosis at adult age that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those Gitelman syndrome patients with severe hypokalemia and hypomagnesemia.2,4

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Journal Info

Abbrev

paediatrica-indonesiana

Publisher

Subject

Health Professions Medicine & Pharmacology

Description

Paediatrica Indonesiana is a medical journal devoted to the health, in a broad sense, affecting fetuses, infants, children, and adolescents, belonged to the Indonesian Pediatric Society. Its publications are directed to pediatricians and other medical practitioners or researchers at all levels of ...