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Iatreia
versão impressa ISSN 0121-0793
Resumo
VELEZ C., MARGARITA MARÍA; CARRIZOSA M., JAIME e CORNEJO O., WILLIAM. PERIODIC FAMILIAL HYPOKALEMIC PARALYSIS. REPORT OF A CASE AND REVIEW OF THE LITERATURE. Iatreia [online]. 2002, vol.15, n.2, pp.114-120. ISSN 0121-0793.
Periodic hypokalemic familial paralysis (PHFP) is a channel-mediated disease. Increasing focal or generalized muscular paralytic episodes are associated with low serum potassium levels. Two point mutations are described, CACNA1S and SCN4A. These mutations affect calcium and sodium mediated potassium channels. A continuous depolarization with low extracelular potassium promotes hypotonia. Known stressors are excercise, cold, stress and high carbohydrate intake. Control of stressors and azetazolamyde are the main treatment options. We describe one patient with clinical and laboratory characteristics of PHFP.
Palavras-chave : HIPOTONÍA; PARÁLISIS; HIPOCALEMIA; MUTACIÓN.