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Association Between Genetically Determined Pancreatic Status and Lung Disease in Adult Cystic Fibrosis Patients^*

^* From the Service de Pneumologie (Drs. Loubières, Grenet, and Stern), Hôpital Foch, Suresnes; Centre d’Etudes de Biologie Prénatale (Dr. Simon-Bouy), SESEP, Université de Versailles, Versailles; Laboratoire de Biostatistique (Drs. Medioni and Landais) Hôpital Necker-Enfants-Malades, Paris; and Laboratoire de Génétique Moléculaire et d’Histocompatibilité (Dr. Férec), INSERM, Brest, France.

Correspondence to: Marc Stern, MD, Service de Pneumologie, Hôpital Foch, 40 rue Worth, 92151 Suresnes cedex, France; e-mail: m.stern{at}hopital-foch.org

Study objectives: The association between genotype and phenotype in cystic fibrosis (CF) has been clearly established for pancreatic status, but not for lung disease.

Design: Retrospective study.

Setting: A respiratory unit of a teaching hospital.

Patients: We studied 51 adult CF patients for whom current data and genotype were available. Thirty-seven patients carried two severe mutations associated with pancreatic insufficiency phenotype (group S). Fourteen patients carried at least one mild (and dominant) mutation associated with pancreatic sufficiency phenotype (group M).

Measurements: We compared the course of the disease between the two groups, looking for a genotype/phenotype association for lung disease.

Results: The mean age of the population was 30 years. Patients with two severe mutations presented more severe disease with earlier onset (1.7 years vs 7.9 years, p = 0.0001). They presented with a more severe respiratory impairment, with a lower mean FEV₁ (29% of predictive value vs 58% of predictive value, p < 0.001); a higher Pseudomonas colonization rate (97% vs 57%, p < 0.01); a more frequent end-stage respiratory insufficiency, defined by a FEV₁ < 30% (73% vs 29%, p < 0.05); and a more marked yearly decline of FEV₁ (3% vs 1.4%, p < 0.001). By multivariate logistic regression analysis, carrying two severe mutations was the only independent predictor of a terminal respiratory insufficiency (relative risk, 6.75; 95% confidence interval, 1.79 to 26.50; p = 0.003).

Conclusion: This study suggests that pulmonary disease appears to be associated with the severity of CF transmembrane regulator mutations.

Key Words: adults • cystic fibrosis • genotype • phenotype

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