All::Endocrinology::Diseases::Bartter's syndrome

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What is the inheritance pattern of Bartter's syndrome?

usually autosomal recessive

Bartter's syndrome

What are the main clinical features of Bartter's syndrome?

  • usually presents in childhood, e.g. Failure to thrive
  • polyuria, polydipsia
  • hypokalaemia
  • normotension
  • weakness

Bartter's syndrome

What is the pathophysiology of Bartter's syndrome?

severe hypokalaemia due to defective chloride absorption at the Na+ K+ 2Cl- cotransporter (NKCC2) in the ascending loop of Henle

Bartter's syndrome