[Cystic fibrosis in adults].
Cystic fibrosis (CF) is a common autosomal-recessive inherited disease, which often results in premature death. Due to treatment advances, life expectancy has however continuously improved in recent years. Currently about half of all patients are adults. There are also "atypical" variants of CF with symptoms occurring in late adulthood. CF is caused by a mutation in the gene coding for a chloride ion channel, known as the cystic fibrosis transmembrane conductance regulator (CFTR). This mutation results in abnormally viscous mucosal secretions, leading to multi-organ disease with particular emphasis in the respiratory and digestive tracts. Impaired mucociliary clearance results in bacterial colonization of the airways (e. g. Pseudomonas aeruginosa) and consequently in chronic pulmonary inflammation, inevitably leading to progressive bronchiectasis and combined ventilatory disorders. Typical acute complications are infective exacerbations - the most frequent cause of death in cystic fibrosis - along with allergic bronchopulmonary aspergillosis, haemoptyses and pneumothoraces. Involvement of the gastrointestinal tract generally manifests as exo- and later endocrine pancreatic insufficiency with diabetes mellitus, malabsorption and sometimes biliary liver cirrhosis. Typical acute complications are pancreatitis and ileus. The article describes epidemiology and pathophysiology of CF and focuses on the signs and symptoms, as well as the diagnostic and multi-modal therapeutic strategies used in adult patients.
Pletz
M W
MW
Klinik für Pneumologie, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625, Hannover, Deutschland. pletz.mathias@mh-hannover.de
Sauer-Heilborn
A
A
Köhnlein
T
T
Seidler
U
U
Lamprecht
G
G
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D001229:Aspergillosis, Allergic Bronchopulmonary / Q000175:diagnosis / Q000209:etiology; D001987:Bronchiectasis / Q000209:etiology; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005808:Genes, Recessive / Q000235:genetics; D000077614:Golgi Matrix Proteins; D006469:Hemoptysis / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins; D018410:Pneumonia, Bacterial / Q000209:etiology; D011379:Prognosis; D011552:Pseudomonas Infections / Q000209:etiology; D011550:Pseudomonas aeruginosa
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C434484:GOPC protein, human; D000077614:Golgi Matrix Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins