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Effect of genotype on selected clinical features of Polish cystic fibrosis adults

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Majka L., Pogorzelski P. A., Pogorzelski A., Mlynarczyk M. W., Mlynarczyk W., Zebrak Z. J., Zebrak J., Rutkiewicz R. E., Rutkiewicz E., Nowicka N. A., Nowicka A., Witt W. M., Witt M.
Journal of Applied Genetics
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2001
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vol. 42
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issue 3
367-377
EN
Cystic fibrosis (CF), the most common autosomal recessive disorder of Caucasians, is caused by the mutations in the gene encoding CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. Until now, approximately 1000 mutations of the CFTR gene have been described. The genotype-phenotype relationships in CF are still not completely understood. This study was undertaken in an attempt to characterise the distribution of CFTR mutations and their effect on selected clinical parameters in a group of Polish CF adults. A total number of 38 adult CF patients (mean age 21.6 ? 6.8); 18 females and 20 males were enrolled in the study. The CFTR gene identification was conducted with the use of PCR and InnoLipa-CF set. The assessed clinical parameters included: age at diagnosis, age, lung function test, X-ray scored in Brasfield score, weight & height. We found that: (1) the genotypes of the studied population were unevenly distributed (65.8% ? genotype deltaF508/M), (2) a high percentage of 3849+10kbC.T was noted, (3) patients homozygous for the deltaF508 mutation were diagnosed significantly earlier and had a lower body mass index, (4) no differences were observed in the patients? length of life or the progression of lung disease. Conclusions: 1. In comparison to other populations, Polish adult CF patients display a relatively higher frequency of mild mutations. 2. Late diagnosis of CF in the studied group may be partially caused by a high percentage of CFTR mutations connected with the mild course of the disease that are difficult to identify. 3. Cystic fibrosis should be more commonly taken into consideration in the differential diagnosis in adult patiens with milder symptoms.
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