Gitelman syndrome
HUMAN DISEASE
Gittings syndrome; Familial hypokalemia-hypomagnesemia; Hillel J. Gitelman; Hillel Jonathan Gitelman; Hillel Gitelman
Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. The disorder is caused by genetic mutations resulting in improper function of the thiazide-sensitive sodium-chloride symporter (SLC12A3, also known as NCC, NCCT, or TSC) located in the distal convoluted tubule of the kidney.