[A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients].
Among 65 CF diagnosed patients with both CFTR gene mutations known genotype-phenotype studies were performed. Correlation between pancreatic insufficiency and so called "severe mutations" was found. Respiratory tract symptoms do not seem to depend on one specific mutation as well as meconium ileus is not only limited to the group of patients with delta F508/delta F508 genotype. Some other genotype - clinical features correlation in CF patients are discussed.
Nowakowska
A
A
Klinika Pediatrii Instytutu Matki i Dziecka w Warszawie.
Bal
J
J
Obersztyn
E
E
Sands
D
D
Maciejko
D
D
Mazurczak
T
T
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007415:Intestinal Obstruction / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D011552:Pseudomonas Infections / Q000235:genetics; D012141:Respiratory Tract Infections / Q000235:genetics; D013542:Sweat / Q000737:chemistry
D002712:Chlorides
Próba oceny zalezności pomiedzy fenotypem a genotypem wśród 65 chorych na mukowiscydoze.