Canalopatiile de clor – interferenŢe între bolile genetice: date actuale pornind de la observaŢia unui caz clinic | [Chloride channelopathies - interferencies between genetic diseases:recent scientific data starting from a clinical observation]

Abstract

The clinical observation that led to the writing of this article was the encounter of two genetic diseases, Cystic Fibrosis and Juvenile Myoclonic Epilepsy, two chloride channelopathies, in the same patient. This represented the reason why I considered it important to briefly describe the main scientific data available at the moment regarding chloride channelopathies in correlation with the observations made in the patients with both diseases. Cystic Fibrosis was first described in 1938 and the affected gene was cloned in 1989. Since then, research and multidisciplinary care improved the life span and quality of life of patients. Myoclonic Juvenile Epilepsy was described in 1957 and since then a lot of genetic research clarified the transmission of the disease. The chloride channelopathies were more intensely studied after the 1990s after the discovery of CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) and the CIC-1 gene (cause of congenital myotonia).