Cystic fibrosis.
Cystic fibrosis is the most common lethal genetic disease in white populations. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres. Researchers now have a more complete understanding of the molecular-biological defect that underlies cystic fibrosis, which is leading to new approaches to treatment. One of these treatments, hypertonic saline, is already in use, whereas others are in advanced stages of development. We review clinical care for cystic fibrosis and discuss recent advances in the understanding of its pathogenesis, implementation of screening of neonates, and development of therapies aimed at treating the basic defect.
O'Sullivan
Brian P
BP
Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01655, USA. osullivb@ummhc.org
Freedman
Steven D
SD
D000818:Animals; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000502:physiology; D004195:Disease Models, Animal; D042241:Early Diagnosis; D005820:Genetic Testing / Q000379:methods; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D008017:Life Expectancy; D016040:Lung Transplantation; D009154:Mutation / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods; D018529:Nutritional Support / Q000379:methods; D017410:Practice Guidelines as Topic; D015995:Prevalence; D011379:Prognosis; D012138:Respiratory Therapy / Q000379:methods; D012462:Saline Solution, Hypertonic; D016896:Treatment Outcome
D012462:Saline Solution, Hypertonic; D019005:Cystic Fibrosis Transmembrane Conductance Regulator