Author/Editor		Mencinger, Marina; Šilar, Mira; Košnik, Mitja; Korošec, Peter
Title		Genetsko testiranje za cistično fibrozo pri odraslih bolnikih
Translated title		Genetic testing for cystic fibrosis in adult patients
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 75, št. 2
Publication year		2006
Volume		str. 71-7
Language		slo
Abstract		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 of the 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 mutations were 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 only one or no mutation was detected a necessity of whole gene sequencing is indicated to exclude rare mutations and polymorphisms that could be implicated in the pathogenesis of atypical CF.
Descriptors		CYSTIC FIBROSIS CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATION GENOTYPE FORCED EXPIRATORY FLOW RATES ADULT PEDIGREE GASTROINTESTINAL DISEASES POLYMERASE CHAIN REACTION