Bartter's Syndrome

Question 1

What is the mode of inheritance for Bartter’s syndrome?

Answer 1

Autosomal recessive

Question 2

What are the features of Bartter’s syndrome?

Answer 2

• Polyuria, polydipsia
• Hypokalaemia
• Normotension
• Weakness

Question 3

When does Bartter’s syndrome usually present?

Answer 3

In childhood

Question 4

What is the pathology of Bartter’s syndrome?

Answer 4

There is a defection in chloride absoprtion at the Na+K+2Cl- cotransporter (NKCC2) in the ascending loop of Henle.

Question 5

Is Bartter’s syndrome associated with hypertensive hypokalaemia or normotensive hypokalaemia?

Answer 5

Normotensive hypokalaemia

Question 6

What other endocrine conditions are associated with hypertensive hypokalaemia?

Answer 6

• Conn’s
• Cushings
• Liddle syndrome

Question 7

What is an easy way of thinking of Bartter’s syndrome?

Answer 7

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