ISSN:
1432-1076
Keywords:
Cystic fibrosis
;
508 Gene mutation
;
Genotype
;
Phenotype
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract In an attenmpt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5–10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and nutritional status of homozygous ΔF508 patients did not differ from that of compound heterozygotes or of patients with other unspecified genotypes. Pulmonary manifestations varied widely in all genotype groups. With the given number of patients, a slightly higher mortality of ΔF508 homozygotes could have been coincidental. We conclude that up to the age of 8.5–10 years the severity of pulmonary lesions and nutritional deficiencies is not related to the
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01957227
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