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J Coll Physicians Surg Pak. 2009 Apr;19(4):257-9. doi: 04.2009/JCPSP.257259.

A rare case of Gitelman's syndrome with hypophosphatemia.

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1
Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore. naureenakhtar@hotmail.com

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.

PMID:
19356345
DOI:
04.2009/JCPSP.257259
[Indexed for MEDLINE]
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