Family periodic paralysis. Case report and literature review [Parálisis periódica familiar. Comunicación de un caso y análisis de la bibliografía]
Por:
Rodríguez J.R.M., Vargas G.A., Hernández K.S., Aguilar R.O., Arrellano Piña G.G., Morales González J.A.
Publicada:
1 ene 2008
Categoría:
Internal Medicine
Resumen:
Hypokalemic periodic paralysis is a rare congenital disease. It's characterized by a normal tiroid function and very low potassium blood levels during the acute attacks of weakness. People who suffer from this disease are born with it as an inherited affection or it occurs as a result of a genetic mutation. In most of the cases, it is inherited as an autosomal dominant disorder (this gene can be transmitted by only one of the parents). Two mutations explain the presence of this disease -a gene mutation of the calcium channel CACNA1S and a gene mutation of the sodium channel SCN4A. This leads to a bad function of the potassium channels, which causes an extra cellular hypokalemia and a depolarization. It is caused by several factors such as exercising, consumption of carbohydrates, cold weather, and stress. Clinic tests consist on insulin and carbohydrate administration and exercise. This disease could be prevented avoiding these factors and it responds to a correct treatment with acetazolamid. Hypokalemic periodic paralysis presents in 1 of each 100,000; in addition it affects more frequently males than females with a higher severity. It is a rare condition between Latin populations, that's why we considered very important to present the following case.