Mukowiscydoza – różnorodność fenotypowa i wyzwania diagnostyczne
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Pediatria Polska tom 86, nr 4, lipiec–sierpie ń 2011 STRESZCZENIE PRACY HABILITACYJNEJ/SUMMARY OF PHD THESIS 401 Mukowiscydoza – różnorodność fenotypowa i wyzwania diagnostyczne Cystic fibrosis – phenotypic heterogeneity and diagnostic challenges Dorota Sands ABSTRACT There 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 scienti fic 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 material Key words: cystic fibrosis Pediatr Pol 2011; 86 (4): 401–405 © 2011 by Polskie Towarzystwo Pediatryczne Otrzymano/Received: 20.05.2011 Zaakceptowano 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: [email protected] Cel Materiał Wyniki
Transcript of Mukowiscydoza – różnorodność fenotypowa i wyzwania diagnostyczne
P e d i a t r i a P o l s k a t o m 8 6 , n r 4 , l i p i e c – s i e r p i e ń 2 0 1 1
STRESZCZENIE PRACY HABILITACYJNEJ/SUMMARY OF PHD THESIS 401
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: [email protected]
Cel
Materiał
Wyniki
P e d i a t r i a P o l s k a t o m 8 6 , n r 4 , l i p i e c – s i e r p i e ń 2 0 1 1
STRESZCZENIE PRACY HABILITACYJNEJ/SUMMARY OF PHD THESIS402
Wnioski
P e d i a t r i a P o l s k a t o m 8 6 , n r 4 , l i p i e c – s i e r p i e ń 2 0 1 1
STRESZCZENIE PRACY HABILITACYJNEJ/SUMMARY OF PHD THESIS 403
P e d i a t r i a P o l s k a t o m 8 6 , n r 4 , l i p i e c – s i e r p i e ń 2 0 1 1
STRESZCZENIE PRACY HABILITACYJNEJ/SUMMARY OF PHD THESIS404
P e d i a t r i a P o l s k a t o m 8 6 , n r 4 , l i p i e c – s i e r p i e ń 2 0 1 1
STRESZCZENIE PRACY HABILITACYJNEJ/SUMMARY OF PHD THESIS 405
