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.