Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus.
Category
Respiratory system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
Certain lower respiratory tract diseases
CA25 Cystic fibrosis
H00218 Cystic fibrosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00218 Cystic fibrosis
De Rose V, Arduino C, Cappello N, Piana R, Salmin P, Bardessono M, Goia M, Padoan R, Bignamini E, Costantini D, Pizzamiglio G, Bennato V, Colombo C, Giunta A, Piazza A
Title
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
