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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome.

OBJECTIVE: Does a delay in diagnosis exist in females with cystic fibrosis ( CF) presenting with respiratory symptoms alone. Does it segregate with poorer clinical outcomes? STUDY DESIGN AND SETTING: A set of 3,851 patients registered with the UK CF Database (diagnosed 1986-2003) were divided into four mutually exclusive categories by mode of presentation: meconium ileus or distal intestinal obstruction syndrome (MI/DIOS); positive family history; newborn screening; and symptoms excluding MI/DIOS. The last symptom category was subdivided to create a group for respiratory symptoms alone. RESULTS: Females presenting with respiratory symptoms alone were diagnosed 9 months later than males (median age of diagnosis in males 22 months, n = 325; females, 31 months, n = 322; P = .028). No gender differences were observed for anthropometric, lung function, microbiological, supplemental feeding, or time since diagnosis using discriminant analysis applied to all patients (n = 461, Wilks' lambda = .97, P = .15) or to patients divided by genotype: DeltaF508/DeltaF508 (n = 168, Wilks' lambda = .97, P = .69), class I-III genotype (n = 251, Wilks' lambda = .96, P = .41), or class IV-V genotype (n = 73, Wilks' lambda = .90, P = .50) presenting with respiratory symptoms alone. CONCLUSIONS: A relative delay in diagnosis exists in female patients presenting with respiratory symptoms alone compared with males. This does not, however, segregate with a significantly poorer clinical phenotype in the UK.[1]


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