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Clinical Investigations: CYSTIC FIBROSIS |

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

Yann Loubières, MD; Dominique Grenet, MD; Brigitte Simon-Bouy, MD, PhD; Jacques Medioni, MD; Paul Landais, MD; Claude Férec, MD, PhD; Marc Stern, MD
Author and Funding Information

*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@hopital-foch.org



Chest. 2002;121(1):73-80. doi:10.1378/chest.121.1.73
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Study objectives: The association between genotype andphenotype in cystic fibrosis (CF) has been clearly established forpancreatic status, but not for lung disease.

Design:Retrospective study.

Setting: A respiratory unit of ateaching hospital.

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

Measurements: Wecompared the course of the disease between the two groups, looking fora 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 withearlier onset (1.7 years vs 7.9 years, p = 0.0001). They presentedwith a more severe respiratory impairment, with a lower meanFEV1 (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 aterminal respiratory insufficiency (relative risk, 6.75; 95%confidence interval, 1.79 to 26.50; p = 0.003).

Conclusion: This study suggests that pulmonary diseaseappears to be associated with the severity of CF transmembraneregulator mutations.

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