A rare case of Gitelman's syndrome with hypophosphatemia.
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.
Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore. naureenakhtar@hotmail.com
Naureen
N
Akhtar
Farkhanda
F
Hafeez
D000293:Adolescent; D000471:Alkalosis; D005260:Female; D053579:Gitelman Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007008:Hypokalemia; D017674:Hypophosphatemia / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D009154:Mutation