[Thirty years of activity at the center for cystic fibrosis in Parma].
One hundred fourteen patients (52 males, age range 1 to 40 yr, median age 16 yr) affected by Cystic Fibrosis (CF) are currently followed by the CF Centre of Parma. Forty two percent of them are adults. Most patients live in Emilia Romagna (59%) and Lombardia (19%). With respect to CF genotype, delta F508 mutation has been found in 54% of patients. Despite of the improvement in knowledge of CF, its diagnosis is still based on the clinical features and sweat test is usually used to confirm the diagnosis. Recent diagnostic tools, such as the genetic analysis and the potential difference measurement, could also be helpful in ambiguous situations. In the CF Centre of Parma, in agreement with the literature, the disease is now diagnosed earlier than in the past. Particularly, in the last year the median age of diagnosis was seven months, while it was 20 months in the 1980s. The early diagnosis and the improvement in the treatment of lung disease has significantly increased the median survival age of our patients, changing from 7.5 years in 1975 to 20 years in 1999. A significant improvement in CF prognosis could be further achieved by potential investigational agents, such as "protein-repair" addressed to CFTR activation. However, the gold standard for CF therapy is represented by gene therapy, although it is not yet available.
Grzincich
G
G
Centro per la Fibrosi Cistica, Istituto Policattedra di Pediatria, Università di Parma.
Pisi
G
G
Spaggiari
C
C
Marvasi
R
R
Battistini
A
A
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000628:therapy; D005260:Female; D006782:Hospitals, Special; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male