Inherited renal tubular defect with hypokalemia

Abstract EN

Bartter's and Gitelman's syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity.

Clinical features and associated calcium and magnesium ion abnormalities are used to diagnose these cases after excluding other commoner causes.

We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, hypokalemia and hypercalciuria and was diagnosed as having Bartter's syndrome.

The second patient is a lady who had recurrent tetany as the only manifestation of Gitelman's syndrome, which is an unusual presentation.

Potassium replacement with supplementation of other deficient ions led to satisfactory clinical and biochemical response.