Bartter syndrome

external

• Causes

  • SLC12A1 gene mutation

• Effects

  • Polyuria
  • Polydipsia
  • Hypokalaemia
  • Hypercalciuria
  • Hypocalcaemia
  • Metabolic alkalosis
  • High renin
  • Hypomagnesaemia
  • Impaired concentrating ability

• Parents

  • Renal metabolic disorder

• Treatments

  • Potassium therapy
  • Potassium-sparing diuretic

• Description

  • "Mutations of genes encoding proteins transporting ions in ascending limb of nephron. SLC12A1 gene Defective reabsorption of sodium
  • chloride
  • and potassium. Prognosis good with early treatment of electrolyte imbalance "