| A rare case of Gitelman's syndrome with hypophosphatemia. | |
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MedLine Citation:
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PMID: 19356345 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Naureen Akhtar; Farkhanda Hafeez |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP Volume: 19 ISSN: 1022-386X ISO Abbreviation: J Coll Physicians Surg Pak Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-09 Completed Date: 2010-01-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9606447 Medline TA: J Coll Physicians Surg Pak Country: Pakistan |
Other Details:
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Languages: eng Pagination: 257-9 Citation Subset: IM |
Affiliation:
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Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore. naureenakhtar@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Alkalosis Female Gitelman Syndrome / complications*, diagnosis, drug therapy, genetics Humans Hypokalemia Hypophosphatemia / diagnosis, drug therapy, etiology*, genetics Mutation |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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