Abstract

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.

Authors

Akhtar N, Hafeez F

Institution

Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore. naureenakhtar@hotmail.com

Source

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 19:4 2009 Apr pg 257-9

MeSH

Adolescent
Alkalosis
Female
Gitelman Syndrome
Humans
Hypokalemia
Hypophosphatemia
Mutation

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19356345