[A 13-year-old boy with a mild form of cystic fibrosis and heterozygote gene mutation for Delta F508].
We report a 13-year old boy with a chronic pseudomonas bronchitis who was first diagnosed as having cystic fibrosis at this age because of an elevated sweat chloride employing pilocarpine-iontophoresis. He is heterozygote for the gene mutation Delta F508. We point out the often moderate course of illness in compound heterozygotes.
Hiort
O
O
Kinderklinik, Medizinischen Universität zu Lübeck.
Artlich
A
A
Wiebicke
W
W
D000293:Adolescent; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation
Ein 13jähriger Junge mit einer milden Form der zystischen Fibrose und heterozygoter Genmutation für Delta F508.