| Hypokalemic paralysis due to Gitelman syndrome: a family study. | |
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MedLine Citation:
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PMID: 17000984 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hypokalemic paralysis is rarely seen as the presenting feature in patients with Gitelman syndrome. We report a Chinese man who presented with periodic paralysis, in whom molecular analysis revealed compound heterozygous inheritance of three mutations of the thiazide-sensitive sodium chloride cotransporter. Family history revealed intrafamilial variation in phenotypes. Gitelman syndrome should be considered as a cause of hypokalemic paralysis, and molecular analysis may help establish the diagnosis. |
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Authors:
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H-Y Ng; S-H Lin; C-Y Hsu; Y-Z Tsai; H-C Chen; C-T Lee |
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Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article |
Journal Detail:
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Title: Neurology Volume: 67 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2006 Sep |
Date Detail:
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Created Date: 2006-09-26 Completed Date: 2006-10-11 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
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Languages: eng Pagination: 1080-2 Citation Subset: AIM; IM |
Affiliation:
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Division of Nephrology, Department of Medicine, Chang-Gung Memorial Hospital, Kaohsiung, Taiwan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Exons Family Health* Female Humans Hypokalemia* / complications, diagnosis, genetics Hypokalemic Periodic Paralysis / diagnosis, etiology*, genetics Kidney Diseases / complications*, genetics Male Mutation Sodium-Potassium-Chloride Symporters / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Sodium-Potassium-Chloride Symporters; 0/sodium-potassium chloride cotransporter 2 protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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