Gitelman Syndrome
AKA - familial hypokalemia-hypomagnesemia, hypomagnesemia-hypokalemia with hypocalciuria
mostly mutations in the SLC12A3 gene (responsible for the thiazide-sensitive NaCl cotransporter), autosomal recessive and considered a milder variant of Bartter syndrome
- specific defect in kidney function.
- impaired ability to reabsorb salt leading to symptoms of dehydration.
- electrolytes affected are primarily mineral ions, specifically potassium, calcium, magnesium, sodium, and chloride.
- Fundamentally, like Bartter’s syndrome, Gitelman syndrome is a salt wasting nephropathy.
- strangely more commonly presents in 2nd decade of life
- Common symptoms - fatigue, dizziness, fainting, muscle weakness, and muscle cramps, GI symptoms eg. abdominal pain, nausea, vomiting and diarrhoea.
- may present with polyuria
- Lab tests
- low serum concentrations of magnesium and potassium and/or elevated serum concentrations of renin, and aldosterone.
- Urine electrolyte measurement looking for inappropriately high urine potassium in the face of hypokalemia.