Abstract
The ΔF508 deletion is found in 70%, the R553X mutation in 5.3% of CF chromosomes in Switzerland. Both mutations show strong linkage to specific haplotypes generated from the marker allele constellation of XV-2c, KM 19, MP6d-9, and J3.11 suggesting that patients carrying the same haplotypes may probably show the same mutation. Age of onset of chronic Pseudomonas aeruginosa colonization (AOCP), X-ray scores (Chrispin-Norman), and relative underweight of 35 patienis homozygous for ΔF508 (ΔF2), 8 patients compound heterozygous for ΔF508 and R553X (ΔF13) and 13 patients compound heterozygous for ΔF508 and haplotype 6 (ΔF16) were compared. In ΔF2 and ΔF13 patients AOCP begins at the age of 7.0 years (1.3-17.4), whereas in the ΔF16 group the colonisation is already present at the age of 4.3 years (0.4-15.7). The severity of lung disease radiographically determined by the Chrispin-Norman scores is significantly (p=0.03) more progressed in ΔF16 patients (score 7) at the age of 1 year than in ihe ΔF2 (3.8) and ΔF13 (3.0) groups. Up to the age of 20 years the ΔF16 patients show significant higher scores than the other groups (p=0.04). Due to large standard deviations, underweight did not express significant differences between the three groups. However, the tendencies are the same as for X-ray scores, the ΔF16 patients being most underweighted. Although the clinical course of CF may also be determined by other than genetic factors, we conclude that haplotype 6 predicts a more severe course than do R553X and even ΔF508.
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Liechti-Gallati, S., Kramer, R. 161 Severe clinical course in cystic fibrosis (CF) patient, compound heterozygous for ΔF508 and haplotype 6. Pediatr Res 30, 655 (1991). https://doi.org/10.1203/00006450-199112000-00191
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DOI: https://doi.org/10.1203/00006450-199112000-00191