Bartter's syndrome

Question 1

Bartter’s syndrome?

Answer 1

• Bartter’s syndrome is an inherited cause (usually autosomal recessive) of severe hypokalaemia due to defective chloride absorption at the Na+ K+ 2Cl- cotransporter (NKCC2) in the ascending loop of Henle.
• It should be noted that it is associated with normotension (unlike other endocrine causes of hypokalaemia such as Conn’s,
• Cushing’s and Liddle’s syndrome which are associated with hypertension).

Question 2

How do loop diuretics work?

Answer 2

• Loop diuretics work by inhibiting NKCC2 -
• think of Bartter’s syndrome as like taking large doses of furosemide

Question 3

Features of Bartter’s syndrome?

Answer 3

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