[Characteristics and specificities of cystic fibrosis in adults: evolutive disease of childhood or recently diagnosed disease?].
We have studied the characteristics of 202 cystic fibrosis adult patients, all with chronic respiratory symptoms, with a median age of 27 yrs (18 to 55 yrs) and a male predominance (56%). At genetic analysis, delta F508 homozygotes were 41%, delta F508 heterozygotes 42% and 17% had no delta F508. The respiratory disease was more severe and complications were more frequent in adults: hemoptysis in 14%, pneumothorax in 15%, lung transplantation in 25 patients. Chronic bronchial colonisation with Pseudomonas aeruginosa, in 76% of patients, contributed to making treatments more severe because of antibiotic i.v. courses and nebulised antibiotics. Respiratory function showed a mean FVC of 62 +/- 22% and a mean FEVI of 48 +/- 94%. External pancreatic insufficiency was found in 83%, diabetes in 14%. Intestinal occlusion syndromes were observed in 11% of patients and hepatic cirrhosis in 8%. In spite of the severity of the respiratory disease, theses patients succeeded in social and occupational insertion; 62% were independent, 18% had children and 77% were working or studying. Analysis of the patients according to age at diagnosis showed that, in 38 patients diagnosed after the age of 18 yrs, the respiratory disease was less severe, pancreatic insufficiency and non-respiratory complications were less frequent (34% had pancreatic insufficiency, 5% had diabetes and none had cirrhosis). This may partly be due to the presence of milder CFTR mutations. In conclusion, cystic fibrosis in adulthood frequently looks like an evolutive form of cystic fibrosis in childhood. Nevertheless, some late diagnosed forms in adults, with better prognosis, have been recently identified.
Hubert
D
D
Service de Pneumologie, Hôpital Cochin, Paris.
Rivoal
V
V
Desmazes-Dufeu
N
N
Lacronique
J
J
Maurer
C
C
Richaud-Thiriez
B
B
Dusser
D
D
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008019:Life Style; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012129:Respiratory Function Tests; D012141:Respiratory Tract Infections / Q000175:diagnosis; D012959:Socioeconomic Factors
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator