A rare case of Gitelman's syndrome with hypophosphatemia.

Research paper by Naureen N Akhtar, Farkhanda F Hafeez

Indexed on: 10 Apr '09Published on: 10 Apr '09Published in: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP


Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter (NCCT) and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. This case reports an adolescent girl presenting with episodes of carpopedal spasms and difficulty in walking with laboratory tests suggestive of Gitelman's syndrome along with hypophosphatemia.