[Further clarification of functional issues in cystic fibrosis. Current research and future prospects].
First rate collaboration between clinicians and research scientists in a multiplicity of fields have brought new hope to patients with cystic fibrosis (CF). The gene, mutations of which give rise to the disease, has been exhaustively mapped, and the functional defects are becoming steadily clearer. Diagnosis is continually being improved and simplified. Neonatal screening has been introduced in many countries and has yielded good results. Promising new advances in treatment include inhalatory DNase (deoxyribonuclease), lung and liver transplantation, UDCA (ursodeoxycholic acid) against cirrhosis, and in vitro fertilisation for men with CF. Pseudomonas species are being combatted more and more effectively with new antibiotics, with immunoglobulins (IgY) for prophylaxis, and possibly new vaccines to come. Future treatment strategies, designed to correct anomalies of cellular biology, are already undergoing clinical trials, and gene therapy using a variety of vectors is undergoing phase-1 trials. A definitive cure remains a realistic hope.
Kollberg
H
H
Uppsala Cystisk fibros center, Akademiska barnsjukhuset.
D000328:Adult; D000818:Animals; D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000008:administration & dosage / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D005260:Female; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D011379:Prognosis
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator