[Cystic fibrosis in changing times. Clinical aspects, basic defect and molecular biology aspects].
Life quality of patients suffering from cystic fibrosis (CF) has been significantly improved by early diagnosis and advanced therapy during the past three decades. Today, an increasing number of severely affected patients reach adult life no longer requiring the care of a pediatrician but of a specialist for internal diseases. The CF gene has recently been cloned and the most common defect defined, thus providing prenatal diagnosis and carrier detection in CF families. Although the identification of the CF gene is expected to have important clinical consequences, including new therapeutic perspectives, in the distant future, the present therapeutic concept must aim at early treatment of lung disease and pancreatic insufficiency. Intensive therapy, however, is for the patient's lifetime and requires adequate individual control.
Liechti-Gallati
S
S
Medizinische Universitäts-Kinderklinik, Inselspital, Bern.
Schöni
M
M
Kraemer
R
R
D000293:Adolescent; D000328:Adult; D001798:Blood Proteins / Q000235:genetics; D040501:Calgranulin A; D002648:Child; D002675:Child, Preschool; D002712:Chlorides / Q000378:metabolism; D003131:Combined Modality Therapy; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007473:Ion Channels; D008565:Membrane Proteins / Q000235:genetics; D008956:Models, Chemical; D011296:Prenatal Diagnosis
D001798:Blood Proteins; C505032:CFTR protein, human; D040501:Calgranulin A; D002712:Chlorides; D007473:Ion Channels; D008565:Membrane Proteins; C026422:cystic fibrosis serum factor; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
Die zystische Fibrose im Wandel der Zeit.Klinisches Bild, Basisdefekt und molekular-biologische Aspekte.