Diagnosis of Adult Patients with Cystic Fibrosis

Clinics in Chest Medicine

Volumn 37, Issue 1, 2016, Pages 47-57

  Nick, Jerry A ^a,b   Nichols, David P ^a,b  

^a DEPARTMENT OF MEDICINE   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

Adult; Bronchiectasis; Cystic fibrosis; Diagnosis; Genotype

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ADULTHOOD; BRONCHIECTASIS; CHRONIC SINUSITIS; CLINICAL FEATURE; CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS; CYSTIC FIBROSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; EVIDENCE BASED MEDICINE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENOTYPE; HIGH RISK POPULATION; HUMAN; LABORATORY TEST; LUNG DISEASE; MALE GENITAL TRACT MALFORMATION; MUTATIONAL ANALYSIS; NEWBORN SCREENING; OUTCOME ASSESSMENT; PANCREATITIS; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; REVIEW; SEQUENCE ANALYSIS; SEX DIFFERENCE; SWEAT CHLORIDE TESTING; CHRONIC DISEASE; GENETIC SCREENING; GENETICS; MUTATION; PROCEDURES;

ADULT; CHRONIC DISEASE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC TESTING; HUMANS; MUTATION;

EID: 84959423406     PISSN: 02725231     EISSN: 15578216     Source Type: Journal    
DOI: 10.1016/j.ccm.2015.11.006     Document Type: Review

References (65)

1. 2013 annual data report; Cystic Fibrosis Foundation patient registry. 2014.
2. Keating C.L., Liu X., Dimango E.A. Classic respiratory disease but atypical diagnostic testing distinguishes adult presentation of cystic fibrosis. Chest 2010, 137:1157-1163.
3. Nick J.A., Rodman D.M. Manifestations of cystic fibrosis diagnosed in adulthood. Curr Opin Pulm Med 2005, 11:513-518.
4. Nick J.A., Chacon C.S., Brayshaw S.J., et al. Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis. Am J Respir Crit Care Med 2010, 182:614-626.
5. Farrell P.M., Rosenstein B.J., White T.B., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008, 153:S4-S14.
6. LeGrys V.A., Yankaskas J.R., Quittell L.M., Cystic Fibrosis Foundation, et al. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr 2007, 151:85-89.
7. Groves T., Robinson P., Wiley V., et al. Long-term outcomes of children with intermediate sweat chloride values in infancy. J Pediatr 2015, 166:1469-1474.e1-e3.
8. Highsmith W.E., Burch L.H., 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.
9. Stewart B., Zabner J., Shuber A.P., et al. Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am J Respir Crit Care Med 1995, 151:899-903.
10. Noone P.G., Knowles M.R. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001, 2:328-332.
11. Gan K.H., Geus W.P., Bakker W., et al. Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years. Thorax 1995, 50:1301-1304.
12. Rodman D.M., Polis J.M., Heltshe S.L., et al. Late diagnosis defines a unique population of long-term survivors of cystic fibrosis. Am J Respir Crit Care Med 2005, 171:621-626.
13. Modolell I., Alvarez A., Guarner L., et al. Gastrointestinal, liver, and pancreatic involvement in adult patients with cystic fibrosis. Pancreas 2001, 22:395-399.
14. Choo-Kang L.R., Zeitlin P.L. Type I, II, III, IV, and V cystic fibrosis transmembrane conductance regulator defects and opportunities for therapy. Curr Opin Pulm Med 2000, 6:521-529.
15. Durno C., Corey M., Zielenski J., et al. Genotype and phenotype correlations in patients with CF and pancreatitis. Gastroenterology 2002, 123:1857-1864.
16. Hubert D., Bienvenu T., Desmazes-Dufeu N., et al. Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. Eur Respir J 1996, 9:2207-2214.
17. McKone E.F., Emerson S.S., Edwards K.L., et al. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676.
18. McKone E.F., Goss C.H., Aitken M.L. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest 2006, 130:1441-1447.
19. Burke W., Aitken M.L., Chen S.H., et al. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Chest 1992, 102:506-509.
20. Cutting G.R. Modifier genes in mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci 2010, 1214:57-69.
21. Joly P., Restier L., Bouchecareilh M., et al. DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency. Rev Mal Respir 2015, 32(7):759-767. [in French].
22. Coutinho C.A., Marson F.A., Marcelino A.R., et al. TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis. Int J Mol Epidemiol Genet 2014, 5:87-99.
23. Blackman S.M., Commander C.W., Watson C., et al. Genetic modifiers of cystic fibrosis-related diabetes. Diabetes 2013, 62:3627-3635.
24. Bradley G.M., Blackman S.M., Watson C.P., et al. Genetic modifiers of nutritional status in cystic fibrosis. Am J Clin Nutr 2012, 96:1299-1308.
25. Chillon M., Casals T., Mercier B., et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995, 332:1475-1480.
26. Taulan M., Viart V., Theze C., et al. Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene. Gene 2012, 500:194-198.
27. Ni W.H., Jiang L., Fei Q.J., et al. The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. Asian J Androl 2012, 14:687-690.
28. Strom C.M., Crossley B., Buller-Buerkle A., et al. Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis. Genet Med 2011, 13:166-172.
29. US CF Foundation JHU, The Hospital for Sick Children. The clinical and functional translation of CFTR (CFTR2). 2011. Available at: Accessed December 2, 2015. http://cftr2.Org.
30. Levy H., Farrell P.M. New challenges in the diagnosis and management of cystic fibrosis. J Pediatr 2015, 166:1337-1341.
31. Shwachman H., Kowalski M., Khaw K.T. Cystic fibrosis: a new outlook. Medicine 1977, 56:129-149.
32. McCloskey M., Redmond A.O., Hill A., et al. Clinical features associated with a delayed diagnosis of cystic fibrosis. Respiration 2000, 67:402-407.
33. Widerman E., Millner L., Sexauer W., et al. Health status and sociodemographic characteristics of adults receiving a CF diagnosis after age 18 years. Chest 2000, 118:427-433.
34. Gilljam M., Ellis L., Corey M., et al. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 2004, 126:1215-1224.
35. Olivier K.N., Weber D.J., Wallace R.J., et al. Nontuberculous mycobacteria. I: Multicenter prevalence study in cystic fibrosis. Am J Respir Crit Care Med 2003, 167:828-834.
36. Esther C.R., Esserman D.A., Gilligan P., et al. Chronic mycobacterium abscessus infection and lung function decline in cystic fibrosis. J Cyst Fibros 2010, 9:117-123.
37. Aitken M.L., Burke W., McDonald G., et al. Nontuberculous mycobacterial disease in adult cystic fibrosis patients. Chest 1993, 103:1096-1099.
38. Levy I., Grisaru-Soen G., Lerner-Geva L., et al. Multicenter cross-sectional study of nontuberculous mycobacterial infections among cystic fibrosis patients, Israel. Emerg Infect Dis 2008, 14:378-384.
39. Fauroux B., Delaisi B., Clement A., et al. Mycobacterial lung disease in cystic fibrosis: a prospective study. Pediatr Infect Dis J 1997, 16:354-358.
40. Olivier K.N., Weber D.J., Lee J.H., et al. Nontuberculous mycobacteria. II: Nested-cohort study of impact on cystic fibrosis lung disease. Am J Respir Crit Care Med 2003, 167:835-840.
41. Ferril G.R., Nick J.A., Getz A.E., et al. Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes. Int Forum Allergy Rhinol 2014, 4(11):915-920.
42. Couper R.T., Corey M., Durie P.R., et al. Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosis. J Pediatr 1995, 127:408-413.
43. Couper R.T., Corey M., Moore D.J., et al. Decline of exocrine pancreatic function in cystic fibrosis patients with pancreatic sufficiency. Pediatr Res 1992, 32:179-182.
44. Bronstein M.N., Sokol R.J., Abman S.H., et al. Pancreatic insufficiency, growth, and nutrition in infants identified by newborn screening as having cystic fibrosis. J Pediatr 1992, 120:533-540.
45. Simmonds N.J., Cullinan P., Hodson M.E. Growing old with cystic fibrosis - the characteristics of long-term survivors of cystic fibrosis. Respir Med 2009, 103:629-635.
46. Sharer N., Schwarz M., Malone G., et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998, 339:645-652.
47. Cohn J.A., Friedman K.J., Noone P.G., et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998, 339:653-658.
48. Noone P.G., Zhou Z., Silverman L.M., et al. Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 2001, 121:1310-1319.
49. Groman J.D., Karczeski B., Sheridan M., et al. Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis. J Pediatr 2005, 146:675-680.
50. Kerem E., Rave-Harel N., Augarten A., et al. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. Am J Respir Crit Care Med 1997, 155:1914-1920.
51. Culard J.F., Desgeorges M., Romey M.C., et al. A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient. Hum Mol Genet 1994, 3:369-370.
52. Claustres M., Guittard C., Bozon D., et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000, 16:143-156.
53. Morea A., Cameran M., Rebuffi A.G., et al. Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility. Mol Hum Reprod 2005, 11:607-614.
54. Strom C.M., Crossley B., Redman J.B., et al. Cystic fibrosis screening: lessons learned from the first 320,000 patients. Genet Med 2004, 6:136-140.
55. Sun W., Anderson B., Redman J., et al. CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med 2006, 8:339-345.
56. Farrell P., Joffe S., Foley L., et al. Diagnosis of cystic fibrosis in the Republic of Ireland: epidemiology and costs. Ir Med J 2007, 100:557-560.
57. McCormick J., Sims E.J., Mehta A. Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome. J Clin Epidemiol 2006, 59:315-322.
58. Lai H.C., Kosorok M.R., Laxova A., et al. Delayed diagnosis of US females with cystic fibrosis. Am J Epidemiol 2002, 156:165-173.
59. Werner C., Onnebrink J.G., Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015, 4:2.
60. Dodd J.D., Lavelle L.P., Fabre A., et al. Imaging in cystic fibrosis and non-cystic fibrosis bronchiectasis. Semin Respir Crit Care Med 2015, 36:194-206.
61. Moss R.B., Flume P.A., Elborn J.S., et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial. Lancet Respir Med 2015, 3:524-533.
62. Van Goor F., Yu H., Burton B., et al. Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. J Cyst Fibros 2014, 13:29-36.
63. Yousef S., Solomon G.M., Brody A., et al. Improved clinical and radiographic outcomes after treatment with ivacaftor in a young adult with cystic fibrosis with the P67l CFTR mutation. Chest 2015, 147:e79-82.
64. Lavelle L.P., McEvoy S.H., Ni Mhurchu E., et al. Cystic fibrosis below the diaphragm: abdominal findings in adult patients. Radiographics 2015, 35:680-695.
65. Testoni P.A. Acute recurrent pancreatitis: Etiopathogenesis, diagnosis and treatment. World J Gastroenterol 2014, 20:16891-16901.