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Clinical Characteristics and Genotype Analysis of Patients With Cystic Fibrosis and Nasal Polyposis Requiring Surgery

Clinical Characteristics and Genotype Analysis of Patients With Cystic Fibrosis and Nasal... Abstract Objective: To analyze the clinical characteristics and genotypes of patients with cystic fibrosis (CF) and nasal polyposis who require surgery. Design: Cross-sectional analysis of a large patient database. Setting: Data obtained from the National CF Patient Registry of the Cystic Fibrosis Foundation, Bethesda, Md. Patients: Clinical and genotype data on 20 198 patients with CF who were registered in 1992 and 1993 were analyzed. The study group (n=815) consisted of patients with CF who had undergone surgical procedures for the treatment of nasal polyposis. The comparison group (n=19 383) comprised the remainder of the patients in the database. Results: Statistical analysis revealed that patients with CF and nasal polyposis who required surgery had better pulmonary function (higher percent-predicted forced expiratory volume in 1 second and forced vital capacity), better nutritional status, a higher rate of Pseudomonas aeruginosa colonization, more office visits, more hospitalizations, and a higher rate of acute exacerbations per year (P<.001 for each) than did the comparison group. Among the patients who had mutation analysis performed, patients with nasal polyposis who required surgery were significantly associated with 2 specific genotypes: the Δ-F508/Δ-F508 (57.5% vs 49.9%, P=.01) and the Δ-F508/G551D (12% vs 8%, P=.05) genotypes. Conclusions: Patients with CF and nasal polyposis who require surgery may constitute a clinical subgroup within the spectrum of the disease. These patients appear to have slightly better pulmonary function and nutritional status; yet, they seem to have a higher degree of health care utilization. The higher rate of P aeruginosa respiratory infection in this patient group suggests an association with the presence of nasal polyposis. Genotype analysis showed a higher prevalence of the Δ-F508/Δ-F508 and the Δ-F508/G551D genotypes in this patient group.Arch Otolaryngol Head Neck Surg. 1996;122:1209-1213 References 1. Stern RC. Cystic fibrosis: recent developments in diagnosis and treatment . Pediatr Rev . 1986;7:276-286.Crossref 2. Ramsey B, Richardson MA. Impact of sinusitis in cystic fibrosis . J Allergy Clin Immunol . 1992;90:547-551.Crossref 3. Crockett DM, McGill TJ, Healy GB, Friedman EM, Salkeld LJ. Nasal and paranasal sinus surgery in children with cystic fibrosis . Ann Otol Rhinol Laryngol . 1987;96:367-372. 4. Cepero R, Smith RJ, Catlin FI, et al. Cystic fibrosis—an otolaryngologist's perspective . Otolaryngol Head Neck Surg . 1987;97:356-360. 5. Cystic Fibrosis Foundation. Patient Registry 1994 Annual Data Report . Bethesda, Md: Cystic Fibrosis Foundation; August 1995. 6. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA . Science . 1989;245: 1066-1073.Crossref 7. Wilschanski M, Zielenski J, Markiewicz D, et al. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations . J Pediatr . 1995;127:705-710.Crossref 8. Kerem B, Rommens JM, Buchanan, et al. Identification of the cystic fibrosis gene: genetic analysis . Science . 1989;245:1073-1080.Crossref 9. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype with cystic fibrosis . N Engl J Med . 1993;329:1308-1313.Crossref 10. Kerem E, Corey M, Kerem B, et al. The relationship between genotype and phenotype in cystic fibrosis—analysis ot the most common mutation (ΔF508) . N Engl J Med . 1990;323:1517-1522.Crossref 11. Johansen HK, Nir M, Hoiby N, Koch C. Schwartz M. Severity of cystic fibrosis in patients homozygous and heterozygous for Δ-F508 mutation . Lancet . 1991; 337:631-634.Crossref 12. Highsmith WE, Burch LH, Zhou Z, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations . N Engl J Med . 1994;331:974-980.Crossref 13. Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations . Hum Genet . 1994;93:364-368.Crossref 14. Augarten A, Kerem B, Yahav Y, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+ 10kb mutation . Lancet . 1993; 342:25-26.Crossref 15. Stern RC, Boat TF, Wood RE, Matthews LW, Doershuk CF. Treatment and prognosis of nasal polyps in cystic fibrosis . AJDC . 1982;136:1067-1070. 16. Lee AB, Pitcher-Wilmott RW. The clinical and laboratory correlates of nasal polyps in cystic fibrosis . Int J Pediatr Otorhinolaryngol . 1982;4:209-214.Crossref 17. Bernstein JM, Cropp GJ. Nasal polyposis and cystic fibrosis . CF Club Abstr . 1986;27:55. 18. Kingdom TT, Lee KC, Cropp GJ. Chronic sinusitis and a negative sweat test in a patient with cystic fibrosis . Am J Rhinol . 1995;4:225-228.Crossref 19. FitzSimmons SC. The changing epidemiology of cystic fibrosis . J Pediatr . 1993; 122:1-9.Crossref 20. Najjar MF, Rowland M. Anthropometric reference data and prevalence of overweight, United States, 1976-80 . Vital Health Stat 2 . 1987; No. (238) . 21. Knudson RJ, Lebowitz MD, Holberg CJ, Burrows B. Changes in the normal maximal expiratory flow-volume curve with growth and aging . Am Rev Respir Dis . 1983;127:725-734. 22. SAS Institute Inc. SAS Users' Guide, I: Statistics . Cary, NC: SAS Institute Inc; 1985. 23. Santis G, Osborne L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis . Lancet . 1990;336: 1081-1083.Crossref 24. Campbell PW, Phillips JA. The cystic fibrosis gene and relationships to clinical status . Semin Respir Infect . 1992;7:150-157. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Otolaryngology - Head & Neck Surgery American Medical Association

Clinical Characteristics and Genotype Analysis of Patients With Cystic Fibrosis and Nasal Polyposis Requiring Surgery

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References (29)

Publisher
American Medical Association
Copyright
Copyright © 1996 American Medical Association. All Rights Reserved.
ISSN
0886-4470
eISSN
1538-361X
DOI
10.1001/archotol.1996.01890230055011
Publisher site
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Abstract

Abstract Objective: To analyze the clinical characteristics and genotypes of patients with cystic fibrosis (CF) and nasal polyposis who require surgery. Design: Cross-sectional analysis of a large patient database. Setting: Data obtained from the National CF Patient Registry of the Cystic Fibrosis Foundation, Bethesda, Md. Patients: Clinical and genotype data on 20 198 patients with CF who were registered in 1992 and 1993 were analyzed. The study group (n=815) consisted of patients with CF who had undergone surgical procedures for the treatment of nasal polyposis. The comparison group (n=19 383) comprised the remainder of the patients in the database. Results: Statistical analysis revealed that patients with CF and nasal polyposis who required surgery had better pulmonary function (higher percent-predicted forced expiratory volume in 1 second and forced vital capacity), better nutritional status, a higher rate of Pseudomonas aeruginosa colonization, more office visits, more hospitalizations, and a higher rate of acute exacerbations per year (P<.001 for each) than did the comparison group. Among the patients who had mutation analysis performed, patients with nasal polyposis who required surgery were significantly associated with 2 specific genotypes: the Δ-F508/Δ-F508 (57.5% vs 49.9%, P=.01) and the Δ-F508/G551D (12% vs 8%, P=.05) genotypes. Conclusions: Patients with CF and nasal polyposis who require surgery may constitute a clinical subgroup within the spectrum of the disease. These patients appear to have slightly better pulmonary function and nutritional status; yet, they seem to have a higher degree of health care utilization. The higher rate of P aeruginosa respiratory infection in this patient group suggests an association with the presence of nasal polyposis. Genotype analysis showed a higher prevalence of the Δ-F508/Δ-F508 and the Δ-F508/G551D genotypes in this patient group.Arch Otolaryngol Head Neck Surg. 1996;122:1209-1213 References 1. Stern RC. Cystic fibrosis: recent developments in diagnosis and treatment . Pediatr Rev . 1986;7:276-286.Crossref 2. Ramsey B, Richardson MA. Impact of sinusitis in cystic fibrosis . J Allergy Clin Immunol . 1992;90:547-551.Crossref 3. Crockett DM, McGill TJ, Healy GB, Friedman EM, Salkeld LJ. Nasal and paranasal sinus surgery in children with cystic fibrosis . Ann Otol Rhinol Laryngol . 1987;96:367-372. 4. Cepero R, Smith RJ, Catlin FI, et al. Cystic fibrosis—an otolaryngologist's perspective . Otolaryngol Head Neck Surg . 1987;97:356-360. 5. Cystic Fibrosis Foundation. Patient Registry 1994 Annual Data Report . Bethesda, Md: Cystic Fibrosis Foundation; August 1995. 6. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA . Science . 1989;245: 1066-1073.Crossref 7. Wilschanski M, Zielenski J, Markiewicz D, et al. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations . J Pediatr . 1995;127:705-710.Crossref 8. Kerem B, Rommens JM, Buchanan, et al. Identification of the cystic fibrosis gene: genetic analysis . Science . 1989;245:1073-1080.Crossref 9. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype with cystic fibrosis . N Engl J Med . 1993;329:1308-1313.Crossref 10. Kerem E, Corey M, Kerem B, et al. The relationship between genotype and phenotype in cystic fibrosis—analysis ot the most common mutation (ΔF508) . N Engl J Med . 1990;323:1517-1522.Crossref 11. Johansen HK, Nir M, Hoiby N, Koch C. Schwartz M. Severity of cystic fibrosis in patients homozygous and heterozygous for Δ-F508 mutation . Lancet . 1991; 337:631-634.Crossref 12. Highsmith WE, Burch LH, Zhou Z, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations . N Engl J Med . 1994;331:974-980.Crossref 13. Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations . Hum Genet . 1994;93:364-368.Crossref 14. Augarten A, Kerem B, Yahav Y, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+ 10kb mutation . Lancet . 1993; 342:25-26.Crossref 15. Stern RC, Boat TF, Wood RE, Matthews LW, Doershuk CF. Treatment and prognosis of nasal polyps in cystic fibrosis . AJDC . 1982;136:1067-1070. 16. Lee AB, Pitcher-Wilmott RW. The clinical and laboratory correlates of nasal polyps in cystic fibrosis . Int J Pediatr Otorhinolaryngol . 1982;4:209-214.Crossref 17. Bernstein JM, Cropp GJ. Nasal polyposis and cystic fibrosis . CF Club Abstr . 1986;27:55. 18. Kingdom TT, Lee KC, Cropp GJ. Chronic sinusitis and a negative sweat test in a patient with cystic fibrosis . Am J Rhinol . 1995;4:225-228.Crossref 19. FitzSimmons SC. The changing epidemiology of cystic fibrosis . J Pediatr . 1993; 122:1-9.Crossref 20. Najjar MF, Rowland M. Anthropometric reference data and prevalence of overweight, United States, 1976-80 . Vital Health Stat 2 . 1987; No. (238) . 21. Knudson RJ, Lebowitz MD, Holberg CJ, Burrows B. Changes in the normal maximal expiratory flow-volume curve with growth and aging . Am Rev Respir Dis . 1983;127:725-734. 22. SAS Institute Inc. SAS Users' Guide, I: Statistics . Cary, NC: SAS Institute Inc; 1985. 23. Santis G, Osborne L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis . Lancet . 1990;336: 1081-1083.Crossref 24. Campbell PW, Phillips JA. The cystic fibrosis gene and relationships to clinical status . Semin Respir Infect . 1992;7:150-157.

Journal

Archives of Otolaryngology - Head & Neck Surgery – American Medical Association

Published: Nov 1, 1996

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