GITELMAN SYNDROME
GITELMAN SYNDROME Autosomal recessive Defect in "Na ๋- Cl￣ cotransporter and TRPM6 transporter" in DCT(distal convoluted tubules) Hallmark feature: salt wasting and polyuria CLINICAL FEATURE: Antenatal H/O: Polyhydramnios failure to thrive Dehydration:sunken AF(anteriofrontal) /delayed skin pinched Diaper change frequency ↑ GFR↓,Renin↑,Aldosterone↑ sluggish MORO/poor cry - k+↓ metabolic alkalosis Mg+ wasting : release of PTH↓ - Hypocalcemia(tetany) WORKUP: Serum electrolyte: Na+↓,k+↓ Urine osmolality: Low , decrease 24 hour urinary chloride: ↑ (IOC) Serum Mg+: ↓↓ TREATMENT: No definitive treatment Clinical profile of Thiazide diuretic is similar to Gitelman syndrome