CLINICAL AND INHERITANCE PATTERN EVALUATION OF FAMILIAL HYPOKALEMIC PERIODIC PARALYSIS IN LORESTAN PROVINCE

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MOROVATI S.; HOSSEINI S.M.J.; KARAMI A.; KIAROUDI M.Y.; GHADYANI M.H.; RANJBAR REZA

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Journal: Journal of Medical Council of Iran Year:2007 | Volume:25 | Issue:2 Page(s): 244-249

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Title

CLINICAL AND INHERITANCE PATTERN EVALUATION OF FAMILIAL HYPOKALEMIC PERIODIC PARALYSIS IN LORESTAN PROVINCE

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Keywords

HYPOKALEMIC PERIODIC PARALYSISQ3

CALCIUM CHANNELSQ3

MUTATIONQ3

Abstract

HYPOKALEMIC PERIODIC PARALYSIS is a rare autosomal dominant disorder in skeletal muscles which is characterized by episodic attacks of muscle weakness with concomitant hypokalemia. The precipitating factors include carbohydrate-rich meals, and rest after exercise. Rapid diagnosis of the disease is important for its management and prognosis. In this study we evaluated clinical and laboratory findings and inheritance pattern of the disease in a large affected family in Lorestan province. Proband is an 18 year old man who develops sudden weakness in his four limbs after taking carbohydrate-rich meals. Clinical and laboratory findings during attacks are coincident with a hypokalemic situation. In his pedigree, his father and some of his family are affected. The disease shows reduced penetrance in females. Pedigree shows several instances of male to male transmission. In most cases, the disease is not due to consanguineous marriage. Analysis of the pedigree revealed that inheritance pattern was autosomal dominant with reduced penetrance in females. The disease has genetic heterogeneity but in most cases it is caused by MUTATIONs in a calcium channel gene (CACNL1AS) or a sodium channel gene (SCN4A). It is important to notice that in this study, unlike other studies, the penetrance of the disease in males is not 100%.

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APA: Copy

MOROVATI, S., HOSSEINI, S.M.J., KARAMI, A., KIAROUDI, M.Y., GHADYANI, M.H., & RANJBAR, REZA. (2007). CLINICAL AND INHERITANCE PATTERN EVALUATION OF FAMILIAL HYPOKALEMIC PERIODIC PARALYSIS IN LORESTAN PROVINCE. JOURNAL OF MEDICAL COUNCIL OF I.R.I., 25(2), 244-249. SID. https://sid.ir/paper/41409/en

Vancouver: Copy

MOROVATI S., HOSSEINI S.M.J., KARAMI A., KIAROUDI M.Y., GHADYANI M.H., RANJBAR REZA. CLINICAL AND INHERITANCE PATTERN EVALUATION OF FAMILIAL HYPOKALEMIC PERIODIC PARALYSIS IN LORESTAN PROVINCE. JOURNAL OF MEDICAL COUNCIL OF I.R.I.[Internet]. 2007;25(2):244-249. Available from: https://sid.ir/paper/41409/en

IEEE: Copy

S. MOROVATI, S.M.J. HOSSEINI, A. KARAMI, M.Y. KIAROUDI, M.H. GHADYANI, and REZA RANJBAR, “CLINICAL AND INHERITANCE PATTERN EVALUATION OF FAMILIAL HYPOKALEMIC PERIODIC PARALYSIS IN LORESTAN PROVINCE,” JOURNAL OF MEDICAL COUNCIL OF I.R.I., vol. 25, no. 2, pp. 244–249, 2007, [Online]. Available: https://sid.ir/paper/41409/en

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