BARTTER SYNDROME

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: increased
  • serum magnesium: normal
TREATMENT:
  • Indomethacin (DOC)
  • Salt supplement
  • ca+ supplement

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