Poster Session Abstracts: Abstracts 342–425

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 358 KB
• Volume: 26
• Category: Article
• ISSN: 8755-6863
• DOI: 10.1002/(sici)1099-0496(199810)26:17+<299::aid-ppul13>3.0.co;2-w

✦ Synopsis

We describe the clinical features of 20 patients from Sicily who have rare genotypes. For each patient, the age of diagnosis, the present age, the sweat test value for chloride, meconium ileus, diabetes, nasal polyps, age of lung colonisation by Pseudomonas aeruginosa and liver involvement are recorded. Pulmonary evaluation has based on the Crispin and Norman chest X-ray score and for patients over 6 years old the forced vital capacity (FVC), and forced expiration volume in one second (FEV1) were measured. Pancreatic evaluation was based on the steatocrit and fecal chimotripsine values. The 2 homozygous R553X mutation patients, 6 and 4 respectively years show a mild form of CF, PI,and no complications. The 6 homozygous G542X mutation patients show a mild/moderate form of CF, PI,intermittent presence or absence of Pseudomonas in sputum culture. Only one has hepatic cirrhosis. Of the 3 DF508/S549N patients, 2 were diagnosed for dehydration and 1 was surgically treated for nasal polyposis. The 2183AA®G mutation was found in 4 compound heterozygous patients: 3 were DF508/2183AA®G, 1 was G542X/2183AA®G. Of the 3 L1077P compound heterozygous, only 1 patient who has the R347P mutation is PS, 1 who is DF508/L1077P compound heterozygous has severe hepatic cirrhosis, the last one who has an unknown mutation is PS. Finally the DF508/3849 + 10kb T®C patient was diagnosed at 23 years is PS and his PS and his sweat chloride values were normal.