Gitelman's syndrome refers to a group of disorders with a distal tubulopathy causing salt-wasting.
The classic syndrome shows autosomal recessive inheritance. There are biallelic mutations in SLC12A3, which encodes the sodium-chloride co-transporter (NCC) in the distal convoluted tubule. However, other hereditary and acquired forms occur.
Pathogenesis:
(1) sodium-wasting tubulopathy (salt-wasting)
(2) activation of the renin-angiotensin-aldosterone system
Clinical features:
(1) the onset is usually during adolescence or early adulthood
(2) muscle weakness
(3) tetany
(4) hypotension
(5) fatigue
(6) salt cravings
(7) thirst
(8) paresthesias
(9) vomiting
(10) variable abdominal pain
Laboratory features:
(1) hypomagnesemia
(2) hypokalemia
(3) metabolic alkalosis
(4) hypocalciuria
(5) hyponatremia
Complications may include:
(1) chondrocalcinosis
(2) prolonged QTc interval and cardiac arrhythmias
(3) renal dysfunction with proteinuria
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