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Previous Volume 329:1308-1313 October 28, 1993 Number 18 Next

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ABSTRACT

Background Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Seventy-two percent of patients with this disease are homozygotes or compound heterozygotes for eight mutations of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7: F₅₀₈, G542X, R553X, W1282X, N1303K, 621+1G-to-T, 1717-1G-to-A, and R117H. We studied the relation between genotype and phenotype in patients from 14 countries.

Methods Each of 399 patients who were compound heterozygotes for F₅₀₈ and one other mutation was matched with the F₅₀₈ homozygote of the same sex who was the closest in age from the same center. A paired analysis was performed of the following outcome variables: age at diagnosis, sweat chloride concentration, growth percentiles, pulmonary-function values, chest-film score, pseudomonas colonization, nasal polyps, pancreatic sufficiency, pancreatitis, diabetes mellitus, meconium ileus, distal intestinal obstruction syndrome, rectal prolapse, cirrhosis, and gallbladder disease.

Results The compound heterozygotes having the genotype R117H/F₅₀₈ clearly differed from the age- and sex-matched F₅₀₈ homozygotes: they more often had pancreatic sufficiency (87 percent vs. 4 percent, P<0.001), were older when the diagnosis was first made (mean [±SD] age, 10.2 ±10.5 vs. 2.5 ±4.3 years; P = 0.002), and had lower sweat chloride concentrations (80 ±18 vs. 108 ±14 mmol per liter, P<0.001). There were no statistically significant differences between F₅₀₈ homozygotes and other compound heterozygotes with regard to any variable tested.

Conclusions Prenatal and prognostic counseling for patients with the R117H/F₅₀₈ genotype should include the likelihood that they will have long-term pancreatic sufficiency. Patients with the other genotypes should expect the early onset of pancreatic insufficiency. For none of the genotypes studied can predictions be made about the occurrence of common complications or the severity or course of pulmonary disease.

Source Information

The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the Appendix. The paper was written by Ada Hamosh, M.D., M.P.H., and Mary Corey, Ph.D., who assume responsibility for its overall content and integrity.

Address reprint requests to Dr. Hamosh at CMSC 1004, Johns Hopkins Hospital, 600 N. Wolfe St., Baltimore, MD 21287-3914.

Full Text of this Article

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Extract | Full Text  
N Engl J Med 1994; 330:865-867, Mar 24, 1994. Correspondence

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