Publication:

Bartter’s syndrome type II due to a novel mutation in KCNJ1 gene presenting in adulthood as recurrent hypokalaemic periodic paralysis

Bartter’s syndrome affects salt reabsorption transporters in Henle's loop's thick ascending limb (TAL). Bartter’s syndrome type II begins in antenatal/neonatal period with an autosomal recessive pattern of inheritance due to mutation in the KCNJ1 gene. Renal disorder begins early. It is a disorder which usually presents in infancy but not in adulthood. We report a case of late onset Bartter’s syndrome type II due to a novel mutation in the KCNJ1 gene manifesting with bilateral medullary nephrocalcinosis and recurrent hypokalaemic periodic paralysis.