A. Kotnik Pirš
Služba za pulmologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija; Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

M. Praprotnik
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

K. Trebušak Podkrajšek
Služba za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

K. Seme
Laboratorij za bakteriološko diagnostiko respiratornih infekcij, Inštitut za mikrobiologijo in imunologijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

M. Aldeco
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

D. Lepej
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

J. Brecelj
Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana in Katedra za pediatrijo, Medicinska fakulteta Ljubljana, Ljubljana, Slovenija

N. Bratanič
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana

U. Krivec
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Cystic fibrosis is a chronic autosomal recessive hereditary disease that affects many organs. It is usually diagnosed in childhood, but milder forms of the disease can remain undiagnosed into adolescence, or sometimes even into adulthood, in countries without neonatal screening. Signs and symptoms of the disease usually differ according to the mutation causing cystic fibrosis. However, the difference in morbidity and mortality between patients is closely correlated with early diagnosis and management regimes. Data collection from patients with rare chronic diseases helps us to better understand the course and progression of the disease and to improve diagnostic procedures and patient management. Collection of uniform data in centres at the national level enables comparison of this data at the international level, which is important for forming guidelines for disease management and designing of clinical studies. Patient data from the Centre for Children with Cystic Fibrosis at the University Children’s Hospital in Ljubljana are presented. All Slovene children with this disease are managed in this Centre.

Key words: cystic fibrosis, children, genetics, lung function, nutritional status.