pediatrics
Bartter Syndrome and Gitelman Syndrome
Key Points
Both Bartter and Gitelman syndromes have impairedsodium chloridereabsorption, which causes mild volume depletion, leading to increases in renin and aldosterone release, resulting in urinary potassium and hydrogen losses. Manifestations vary depending on genotype, but growth and development may be affected and electrolyte abnormalities may cause muscle weakness, cramping, spasms, tetany, or fatigue. Diagnosis involves serum and urinary electrolyte measurement; genetic testing is becoming more available for confirmation and identification of the Bartter subtypes. Treatment involves electrolyte replacement; for Bartter syndrome, NSAIDs also are given. 