39 KB126 KB33 KB192920262006Korošec, PeterKošnik, MitjaMencinger, MarinaŠilar, Miraštevilka:2letnik:75str. 71-77ISSN:1318-0347COBISSID:20851161URN:URN:NBN:SI:doc-XEKRPJF2slSlovensko zdravniško društvoZdravniški vestnikAdultCistična fibrozaCistična fibroza, regulator transmembranske prevodnostiCystic FibrosisCystic Fibrosis Transmembrane Conductance Regulatordedne boleznidiagnostikaForced Expiratory Flow RatesForsirani, ekspiratorni pretokiGastrointestinal DiseasesGastrointestinalne bolezniGeneticsgenetske bolezniGenotipGenotypeMutacijaMutationOdrasliPedigreePolimerazna, verižna reakcijaPolymerase Chain ReactionRodovnikGenetsko testiranje za cistično fibrozo pri odraslih bolnikih| Genetic testing for cystic fibrosis in adult patients|Background. Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in gene encoding cystic fibrosis transmembrane regulator (CFTR) protein. Over 1400 mutations found in the gene contribute to the complexity ofthe CF phenotypes ranging from a classic multiorgan disease commonly involving respiratory, gastrointestinal and reproductive tract to mild and monosymptomatic presentations. Pilocarpine iontophoresis is considered as standard diagnostic test for CF, but it often fails in atapical forms of CF. Methods. In order to provide an additional diagnostic test to assure the diagnosis and provide patients with a proper medical care, we performed a genetic testing on 16 adults suspected to have atypical form of CF. Following counselling, parents of patients with possible homozygote variant of mutationswere tested. On a personal request testing was also performed in an adult stibling of a patient with two known mutations to investigate possible carrier hood. The allele specific polymerase chain reaction method (PCR) was used to detected 29 most common mutations in the cftr gene. Results. the diagnosis was proved in 3 individuals, a homozygote for deltaF508, and two compound heterozygotes deltaF508/R1162X and deltaF508/3849+10kbC>T. In three cases only one mutation was found: I148T, 2789+5G>A and deltaF508 in a heterozygote form. Conclusions. The genetic testing for CF is a valuable diagnostic tool in atypical forms of CF. Exclusion of possible differential diagnosis is warranted because of a variable CF phenotype. In cases where onlyone or no mutation was detected a necessity of whole gene sequencing is indicated to exclude rare mutations and polymorphisms that could be implicatedin the pathogenesis of atypical CFTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo