====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. [[https://rarediseases.org/rare-diseases/gitelman-syndrome/]]