pediatrics
Bartter Syndrome and Gitelman Syndrome
Symptoms and Signs
Bartter syndrome tends to manifest prenatally or during infancy or early childhood. Gitelman syndrome tends to manifest during late childhood to adulthood. Of note, some patients, especially those with Gitelman syndrome, are asymptomatic and diagnosed incidentally after blood tests are done. Bartter syndrome can manifest prenatally with intrauterine growth restriction and polyhydramnios. Different forms of Bartter syndrome can have specific manifestations, including hearing loss, Hypocalcemia , and nephrocalcinosis, depending on the underlying genetic defect. Children with Bartter syndrome, more so than those with Gitelman syndrome, may be born prematurely and may have poor growth and development postnatally, and some children have intellectual disability. Inability to retain potassium, calcium, or magnesium can lead to muscle weakness, cramping, spasms, tetany, or fatigue. This is especially apparent in Gitelman syndrome. Polydipsia, polyuria, salt cravings, and vomiting may be present in both syndromes. Most patients with Bartter syndrome or Gitelman syndrome have low or low-normal blood pressure and may have signs of volume depletion. In general, neither Bartter syndrome nor Gitelman syndrome typically leads to chronic renal insufficiency. 