Abstract
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.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Adult
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Exons
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Family Health*
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Female
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Humans
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Hypokalemia* / complications
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Hypokalemia* / diagnosis
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Hypokalemia* / genetics
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Hypokalemic Periodic Paralysis / diagnosis
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Hypokalemic Periodic Paralysis / etiology*
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Hypokalemic Periodic Paralysis / genetics
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Kidney Diseases / complications*
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Kidney Diseases / genetics
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Male
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Mutation
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Sodium-Potassium-Chloride Symporters / genetics
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Solute Carrier Family 12, Member 1
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Syndrome
Substances
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SLC12A1 protein, human
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Sodium-Potassium-Chloride Symporters
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Solute Carrier Family 12, Member 1