Pediatria pre prax 4/2002
Iontové kanály ve zdraví a nemoci
Ion channels in diseases In recent years, intense development of genetics and molecular biology has enabled to recognize a number of diseases up to the level of cells. Many of the analyzes applied are able to diagnose some disorders early, some of them even in the prenatal period. The meaning of quick diagnostics is important not only for initiating suitable therapy but even for planning another pregnancy or terminating gravidity in the cases where prognosis of demonstrated fetus affection is very severe. Channelopathies are a diverse group of diseases that are caused by mutations in genes encoding ion channels and subsequent dysfunction of the channels. Diseases as different as Bartter syndrome, cardiac arrhythmias, and myotonia belong to the best-known channelopathies of childhood. On the backgrounds of a case report of a child with cystic fibrosis, the authors have given a review of channelopathies, some of which are reported on in more details, particularly from the aspects of diagnosis and therapy. Channelopathies are a model of diseases for intensive cooperation of pediatricians, geneticists as well as physiologists and pathologists. Key words: channelopathies, childhood, inborn errors.
