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Mukowiscydoza – różnorodność fenotypowa i wyzwania diagnostyczne

Cystic fibrosis – phenotypic heterogeneity and diagnostic challenges

Dorota Sands

ABSTRACTThere is great heterogeneity in the clinical manifestations of cystic fibrosis (CF). It is only partially explained by the high number of different mutations in the CFTR gene. More than 1700 sequence variations have been reported in the CFTR gene.Aim. The aim of the study is to present the factors influencing phenotypic variability, age of diagnosis, quality of life and also the usefulness of new diagnostic methods in CF diagnosis.Material. The study was undertaken using the author’s own published scientific papers concerning cystic fibrosis: A total of 14 papers published in reviewed journals ranked by the Ministry of Science and Higher Education and Impact Factor were selected as the core materialKey words: cystic fibrosis

Pediatr Pol 2011; 86 (4): 401–405© 2011 by Polskie Towarzystwo PediatryczneOtrzymano/Received: 20.05.2011Zaakceptowano do druku/Accepted: 10.06.2011

Klinika Pediatrii, Instytut Matki i Dziecka w Warszawie

Konflikt interesu/ Conflicts of interest: Autor pracy nie zgłasza konfliktu interesów

Adres do korespondencji/ Address for correspondence: dr hab.n.med. Dorota Sands Klinika Pediatrii, Instytut Matki i Dziecka Kasprzaka 17A 01-211 Warszawa e-mail: dorotasands@onet.eu

Cel

Materiał

Wyniki

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Wnioski

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