Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Journal of Pediatrics

Volumn 181, Issue , 2017, Pages S4-S15.e1

  Farrell, Philip M ^a   White, Terry B ^b   Ren, Clement L ^c   Hempstead, Sarah E ^b   Accurso, Frank ^d   Derichs, Nico ^e   Howenstine, Michelle ^c   McColley, Susanna A ^f   Rock, Michael ^a   Rosenfeld, Margaret ^g   Sermet Gaudelus, Isabelle ^h   Southern, Kevin W ⁱ   Marshall, Bruce C ^b   Sosnay, Patrick R ^j  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b CYSTIC FIBROSIS FOUNDATION   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f NORTHWESTERN UNIVERSITY   (United States)

^g UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ UNIVERSITY OF LIVERPOOL   (United Kingdom)

^j JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

CF screen positive, inconclusive diagnosis; CFTR related metabolic syndrome; immunoreactive trypsinogen; intestinal current measurement; nasal potential difference; newborn screening; pancreatitis associated protein; sweat test

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN;

ARTICLE; CONSENSUS; CYSTIC FIBROSIS; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; GENE MUTATION; GENETIC SCREENING; HUMAN; METABOLIC SYNDROME X; NEWBORN SCREENING; PRACTICE GUIDELINE; PRIORITY JOURNAL; SWEAT CHLORIDE TEST; NEWBORN;

CYSTIC FIBROSIS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 85010338550     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2016.09.064     Document Type: Article

References (82)

1. 1 Kosorok, M.R., Wei, W.H., Farrell, P.M., The incidence of cystic fibrosis. Stat Med 15 (1996), 449–462.
2. 2 Palomaki, G.E., FitzSimmons, S.C., Haddow, J.E., Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med 6 (2004), 405–414.
3. 3 Hamosh, A., FitzSimmons, S.C., Macek, M., Knowles, M.R., Rosenstein, B.J., Cutting, G.R., Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 132 (1998), 255–259.
4. 4 ECFS Patient Registry, ECFSPR_Report2013_02.2016.pdf [Internet]. Published February 2016 https://www.ecfs.eu/sites/default/files/images/ECFSPR_Report2013_02.2016.pdf Accessed May 9, 2016.
5. 5 Burgel, P.-R., Bellis, G., Olesen, H.V., Viviani, L., Zolin, A., Blasi, F., et al. Future trends in cystic fibrosis demography in 34 European countries. Eur Respir J 46 (2015), 133–141.
6. 6 Kerem, B., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245 (1989), 1073–1080.
7. 7 Dorfman R, for the CFMD/CFTR1 Team, Cystic fibrosis mutation database [Internet]. http://www.genet.sickkids.on.ca/cftr/app Updated April 2011. Accessed May 3, 2016.
8. 8 Report of the committee for a study for evaluation of testing for cystic fibrosis. J Pediatr 88:4 Pt 2 (1976), 711–750.
9. 9 Sosnay, P.R., White, T.B., Farrell, P.M., Ren, C.L., Derichs, N., Howenstine, M.S., et al. Diagnosis of cystic fibrosis in nonscreened populations. J Pediatr 181S (2017), S52–7.
10. 10 Cystic Fibrosis Foundation, Cystic Fibrosis Foundation Patient Registry 2014 annual data report. 2015, Cystic Fibrosis Foundation, Bethesda (MD).
11. 11 Ren, C.L., Fink, A.K., Petren, K., Borowitz, D.S., McColley, S.A., Sanders, D.B., et al. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening. Pediatrics, 135, 2015 e1386-92.
12. 12 Parad, R.B., Comeau, A.M., Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 147:Suppl 3 (2005), S78–82.
13. 13 Levy, H., Farrell, P.M., New challenges in the diagnosis and management of cystic fibrosis. J Pediatr 166 (2015), 1337–1341.
14. 14 Tluczek, A., Chevalier McKechnie, A., Lynam, P.A., When the cystic fibrosis label does not fit: a modified uncertainty theory. Qual Health Res 20 (2010), 209–223.
15. 15 Tluczek, A., Orland, K.M., Cavanagh, L., Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res 21 (2011), 174–186.
16. 16 Nelson, M.R., Adamski, C.R., Tluczek, A., Clinical practices for intermediate sweat tests following abnormal cystic fibrosis newborn screens. J Cyst Fibros 10 (2011), 460–465.
17. 17 Gilljam, M., Ellis, L., Corey, M., Zielenski, J., Durie, P., Tullis, D.E., Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 126 (2004), 1215–1224.
18. 18 Masaryk, T.J., Achkar, E., Pancreatitis as initial presentation of cystic fibrosis in young adults. A report of two cases. Dig Dis Sci 28 (1983), 874–878.
19. 19 Marshak, T., Rivlin, Y., Bentur, L., Ronen, O., Uri, N., Prevalence of rhinosinusitis among atypical cystic fibrosis patients. Eur Arch Otorhinolaryngol 268 (2011), 519–524.
20. 20 CFTR2@Johns Hopkins, Home page [Internet]. http://cftr2.org/ Updated August 2016. Accessed October 21, 2016.
21. 21 Sosnay, P.R., Siklosi, K.R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 45 (2013), 1160–1167.
22. 22 Sosnay, P.R., Salinas, D.B., White, T.B., Ren, C.L., Farrell, P.M., Raraigh, K.S., et al. Applying cystic fibrosis transmembrane conductance regulator genetics and CFTR2 data to facilitate diagnoses. J Pediatr 181S (2017), S27–32.
23. 23 Ooi, C.Y., Dupuis, A., Ellis, L., Jarvi, K., Martin, S., Gonska, T., et al. Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?. Thorax 67 (2012), 618–624.
24. 24 Farrell, P.M., Rosenstein, B.J., White, T.B., Accurso, F.J., Castellani, C., Cutting, G.R., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 153 (2008), S4–14.
25. 25 Cystic Fibrosis Foundation, Borowitz, D., Parad, R.B., Sharp, J.K., Sabadosa, K.A., Robinson, K.A., et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr, 155(Suppl 6), 2009 S106-16.
26. 26 Munck, A., Mayell, S.J., Winters, V., Shawcross, A., Derichs, N., Parad, R., et al. Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 14 (2015), 706–713.
27. 27 Bombieri, C., Claustres, M., De Boeck, K., Derichs, N., Dodge, J., Girodon, E., et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 10:Suppl 2 (2011), S86–102.
28. 28 Farrell, P.M., White, T.B., Howenstine, M.S., Munck, A., Parad, R.B., Rosenfeld, M., et al. Diagnosis of cystic fibrosis in screened populations. J Pediatr 181S (2017), S33–44.
29. 29 Ren, C.L., Borowitz, D.S., Gonska, T., Howenstine, M.S., Levy, H., Massie, J., et al. Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome and cystic fibrosis screen positive, inconclusive diagnosis. J Pediatr 181S (2017), S45–51.
30. 30 SurveyMonkey: Free online survey software & questionnaire tool [Internet]. https://www.surveymonkey.com./ Accessed May 3, 2016.
31. 31 Rock, M., Farrell, P., Sweat testing after abnormal CF newborn screening: a single center 20 year experience [Abstract]. Pediatr Pulmonol, 50(S41), 2015, 381.
32. 32 LeGrys, V.A., Applequist, R., Briscoe, D., Farrell, P., Hickstein, R., Lo, S., et al. Sweat testing: Sample collection and quantitative chloride analysis. Approved guideline, CLSI Document C34-A3. 3rd ed, 2009, Clinical and Laboratory Standards Institute, Wayne (PA).
33. 33 LeGrys, V.A., Yankaskas, J.R., Quittell, L.M., Marshall, B.C., Mogayzel, P.J., Cystic Fibrosis Foundation. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr 151 (2007), 85–89.
34. 34 Legrys, V.A., McColley, S.A., Li, Z., Farrell, P.M., The need for quality improvement in sweat testing infants after newborn screening for cystic fibrosis. J Pediatr 157 (2010), 1035–1037.
35. 35 McColley, S.A., Shryock, H., Healy, E., Nash, C., Improving sweat test QNS rates for infants with positive CF NBS in Illinois [Abstract]. Pediatr Pulmonol, 47(S35), 2012, 382.
36. 36 Abdulhamid, I., Schuen, J., Gregoire-Bottex, M., Reducing the rate of inadequate sweat testing for NBS in the state of Michigan [Abstract]. Pediatr Pulmonol, 48(S36), 2013, 377.
37. 37 Aqil, B., West, A., Dowlin, M., Tam, E., Nordstrom, C., Buffone, G., et al. Implementation of a quality improvement program to improve sweat test performance in a pediatric hospital. Arch Pathol Lab Med 138 (2014), 920–922.
38. 38 Eng, W., LeGrys, V.A., Schechter, M.S., Laughon, M.M., Barker, P.M., Sweat-testing in preterm and full-term infants less than 6 weeks of age. Pediatr Pulmonol 40 (2005), 64–67.
39. 39 Guimarães, E.V., Schettino, G.C.M., Camargos, P.A.M., Penna, F.J., Prevalence of hyponatremia at diagnosis and factors associated with the longitudinal variation in serum sodium levels in infants with cystic fibrosis. J Pediatr 161 (2012), 285–289.
40. 40 Neville, L.A., Ranganathan, S.C., Vitamin D in infants with cystic fibrosis diagnosed by newborn screening. J Paediatr Child Health 45 (2009), 36–41.
41. 41 Giglio, L., Candusso, M., D'Orazio, C., Mastella, G., Faraguna, D., Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening. Acta Paediatr 86 (1997), 1162–1165.
42. 42 VanDevanter, D.R., Kahle, J.S., O'Sullivan, A.K., Sikirica, S., Hodgkins, P.S., Cystic fibrosis in young children: a review of disease manifestation, progression, and response to early treatment. J Cyst Fibros 15 (2016), 147–157.
43. 43 Cystic Fibrosis Foundation, Borowitz, D., Robinson, K.A., Rosenfeld, M., Davis, S.D., Sabadosa, K.A., et al. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr 155:Suppl 6 (2009), S73–93.
44. 44 Tluczek, A., Koscik, R.L., Farrell, P.M., Rock, M.J., Psychosocial risk associated with newborn screening for cystic fibrosis: parents’ experience while awaiting the sweat-test appointment. Pediatrics 115 (2005), 1692–1703.
45. 45 Ulph, F., Cullinan, T., Qureshi, N., Kai, J., Parents’ responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening. Eur J Hum Genet 23 (2015), 459–465.
46. 46 Comeau, A.M., Accurso, F.J., White, T.B., Campbell, P.W., Hoffman, G., Parad, R.B., et al. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics, 119, 2007 e495-518.
47. 47 Tluczek, A., Koscik, R.L., Modaff, P., Pfeil, D., Rock, M.J., Farrell, P.M., et al. Newborn screening for cystic fibrosis: parents’ preferences regarding counseling at the time of infants’ sweat test. J Genet Couns 15 (2006), 277–291.
48. 48 Rosenstein, B.J., Cutting, G.R., The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 132 (1998), 589–595.
49. 49 Therrell, B.L., Hannon, W.H., Hoffman, G., Ojodu, J., Farrell, P.M., Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: challenges in newborn dried blood spot screening. Mol Genet Metab 106 (2012), 1–6.
50. 50 Rock, M.J., Levy, H., Zaleski, C., Farrell, P.M., Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening. Pediatr Pulmonol 46 (2011), 1166–1174.
51. 51 Watson, M.S., Cutting, G.R., Desnick, R.J., Driscoll, D.A., Klinger, K., Mennuti, M., et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6 (2004), 387–391.
52. 52 Cordovado, S.K., Hendrix, M., Greene, C.N., Mochal, S., Earley, M.C., Farrell, P.M., et al. CFTR mutation analysis and haplotype associations in CF patients. Mol Genet Metab 105 (2012), 249–254.
53. 53 Bergougnoux, A., Boureau-Wirth, A., Rouzier, C., Altieri, J.-P., Verneau, F., Larrieu, L., et al. A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants. J Cyst Fibros 15 (2016), 309–312.
54. 54 Kiesewetter, S., Macek, M., Davis, C., Curristin, S.M., Chu, C.S., Graham, C., et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 5 (1993), 274–278.
55. 55 Thauvin-Robinet, C., Munck, A., Huet, F., Génin, E., Bellis, G., Gautier, E., et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 46 (2009), 752–758.
56. 56 Boyle, M.P., De Boeck, K., A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. Lancet Respir Med 1 (2013), 158–163.
57. 57 Vertex Pharmaceuticals Inc., Highlights of Prescribing Information: ORKAMBI. [Internet]. http://www.accessdata.fda.gov/drugsatfda_docs/label/2015/206038Orig1s000lbl.pdf Published July 2015. Accessed August 8, 2016.
58. 58 Vertex Pharmaceuticals Inc., Highlights of Prescribing Information: KALYDECO [Internet]. http://www.accessdata.fda.gov/drugsatfda_docs/label/2015/203188s017lbl.pdf Published 2015. Accessed August 8, 2016.
59. 59 Augarten, A., Kerem, B.S., Yahav, Y., Noiman, S., Rivlin, Y., Tal, A., et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C→T mutation. Lancet 342 (1993), 25–26.
60. 60 Highsmith, W.E., Burch, L.H., Zhou, Z., Olsen, J.C., Boat, T.E., Spock, A., et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 331 (1994), 974–980.
61. 61 Stewart, B., Zabner, J., Shuber, A.P., Welsh, M.J., McCray, P.B., Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am J Respir Crit Care Med 151:3 Pt 1 (1995), 899–903.
62. 62 Feldmann, D., Couderc, R., Audrezet, M.-P., Ferec, C., Bienvenu, T., Desgeorges, M., et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat, 22, 2003, 340.
63. 63 Keating, C.L., Liu, X., Dimango, E.A., Classic respiratory disease but atypical diagnostic testing distinguishes adult presentation of cystic fibrosis. Chest 137 (2010), 1157–1163.
64. 64 Goubau, C., Wilschanski, M., Skalická, V., Lebecque, P., Southern, K.W., Sermet, I., et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 64 (2009), 683–691.
65. 65 Naehrlich, L., Ballmann, M., Davies, J., Derichs, N., Gonska, T., Hjelte, L., et al. Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. J Cyst Fibros 13 (2014), 24–28.
66. − channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. Gastroenterology 127 (2004), 1085–1095.
67. 67 Derichs, N., Sanz, J., Von Kanel, T., Stolpe, C., Zapf, A., Tümmler, B., et al. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax 65 (2010), 594–599.
68. 68 Ooi, C.Y., Dupuis, A., Gonska, T., Ellis, L., Ni, A., Jarvi, K., et al. Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?. Ann Am Thorac Soc 11 (2014), 562–570.
69. 69 Sermet-Gaudelus, I., Girodon, E., Roussel, D., Deneuville, E., Bui, S., Huet, F., et al. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax 65 (2010), 539–544.
70. 70 De Boeck, K., Kent, L., Davies, J., Derichs, N., Amaral, M., Rowe, S.M., et al. CFTR biomarkers: time for promotion to surrogate end-point. Eur Respir J 41 (2013), 203–216.
71. 71 Bagheri-Hanson, A., Nedwed, S., Rueckes-Nilges, C., Naehrlich, L., Intestinal current measurement versus nasal potential difference measurements for diagnosis of cystic fibrosis: a case-control study. BMC Pulm Med, 14, 2014, 156.
72. 72 De Jonge, H.R., Ballmann, M., Veeze, H., Bronsveld, I., Stanke, F., Tümmler, B., et al. Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers. J Cyst Fibros 3:Suppl 2 (2004), 159–163.
73. 73 De Boeck, K., Derichs, N., Fajac, I., de Jonge, H.R., Bronsveld, I., Sermet, I., et al. New clinical diagnostic procedures for cystic fibrosis in Europe. J Cyst Fibros 10:Suppl 2 (2011), S53–66.
74. 74 Farrell, P.M., White, T.B., Derichs, N., Castellani, C., Rosenstein, B.J., Cystic fibrosis diagnostic challenges over 4 decades: historical perspectives and lessons learned. J Pediatr 181S (2017), S16–26.
75. 75 Castellani, C., Massie, J., Sontag, M., Southern, K.W., Newborn screening for cystic fibrosis. Lancet Respir Med http://dx.doi.org/10.1016/S2213-2600(16)00053-9, 2016 Accessed May 5, 2016; [Internet].
76. 76 Ooi, C.Y., Castellani, C., Keenan, K., Avolio, J., Volpi, S., Boland, M., et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics, 135, 2015 e1377-85.
77. 77 Levy, H., Nugent, M., Schneck, K., Stachiw-Hietpas, D., Laxova, A., Lakser, O., et al. Refining the continuum of CFTR-associated disorders in the era of newborn screening. Clin Genet 89 (2016), 539–549.
78. 78 Kharrazi, M., Yang, J., Bishop, T., Lessing, S., Young, S., Graham, S., et al. Newborn screening for cystic fibrosis in California. Pediatrics 136 (2015), 1062–1072.
79. 79 Rock, M.J., Mischler, E.H., Farrell, P.M., Bruns, W.T., Hassemer, D.J., Laessig, R.H., Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test. Pediatr Pulmonol 6 (1989), 42–48.
80. 80 Massie, J., Curnow, L., Tzanakos, N., Francis, I., Robertson, C.F., Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing. Arch Dis Child 91 (2006), 222–225.
81. 81 WHO, ICD-10 version: 2016 [Internet]. http://apps.who.int/classifications/icd10/browse/2016/en Published 2016. Accessed July 18, 2016.
82. 82 WHO, International Classification of Diseases (ICD) information sheet [Internet]. http://www.who.int/classifications/icd/factsheet/en/ Published 2016. Accessed July 18, 2016.