learning medicine

BARTTER SYNDROME Autosomal recessive Defect in the "Na-k-2cl cotransporter , cl channel and ROMK transporter" in loop of Henle  These channels are responsible for voltage gradient which causes ca++ reabsorption Hence defect in these channels leads to ca2+ wasting cl channel present in the inner ear are also defective ⇁ sensorineural deafness  CLINICAL FEATURES: Salt wasting/polyuria polyhydramnios SN deafness failure of thrive Dehydration: sunken anteriofrontal /delayed skin pinch diaper change frequency ↑ GFR ↓, RAAS:↑Aldosterone - loss of k+ and H+ Hypokalemic alkalosis k+ channel defect : hypokalemia voltage gradient ↓ which helps in calcium resorption calcium wasting: nephrocalcinosis renal rickets: delayed dentition, wide open anteriofrontal, short stature WORKUP: Serum electrolyte: sodium decreased and potassium decreased Urinary osmolality: decreased 24 hours urinary chloride: increased 24 hours urinary calcium: i...

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