Abdul Aziz Abdullah1
1. Registrar, Department of Medicine, North East Medical College and Hospital.
Abstract
Bartter syndrome is a very rare disease with a prevalence of 1 case in 1000000 individual. It occurs due to defect in any of the transporter protein in the TAL of loop of Henle named NKCC2.ROMK, CIC. Kb.Barttin or may be due to gain of function mutation of calcium sensing receptor. There are 5 types of bartter syndrome. All of them present with features of persistent hypokalemia, metabolic alkalosis. hypomagnesaemia, normal blood pressure, growth retardation. Type 4 bartter syndrome additionally shows feature of sensorineural deafness. Type 5 bartter syndrome additionally present with hypocalcaemia and hypoparathyroidism. Type 5 bartter syndrome is autosomal dominant disorder so at least one of the parents should shows similar type of disease. On the other hand type 1 to 4 bartter syndrome is autosomal recessive. In our hospital I found a patient presented with growth retardation, sensorineural deafness, hypocalcaemic tetany, hypoparathyroidism, normal blood pressure, hypokalemia, metabolic alkalosis and hypomagnesaemia, I diagnosed this patient as a case of bartter syndrome on the basis of clinical and biochemical evidence. But interestingly there was an overlap of features of both type 4 and type 5 bartter syndromes that is sensorineural deafness and low PTH with hypocalcaemia. So I report this rare case of bartter syndrome with overlapping features of both type 4 and type 5.
Key Words: Bartter syndrome, Overlapping features