Review
Year 2016,
Volume: 8 Issue: 5, 25 - 34, 06.09.2016
Abstract
Abstract
Cystic Fibrosis (CF), is the most common lethal disease in Caucasians that is genetically transmitted as an autosomal recessive disorder. Frequency varies from country to country. CF has been taken into newborn screening program in our country since October 2015. In addition to clinical symptoms, laboratory findings of the disease denote attention. Life expectancy was extended up to 40 years of age concurrently with the advances in treatment of the disease. In this section, novel developments in the diagnosis and the treatment of the disease will be discussed.
References
- Kaynaklar 1.Gürson CT, Sertel H, Gürkan M, Pala S. Newborn screeningfor cystic fibrosis with the chloride electrode and neutron ac-tivation analysis. Helv Paediatr Acta 1973; 28: 165-74. 2.Yamashiro Y, Shimizu T, Oguchi S, Shioya T, Nagata S, Oht-sukaY. The estimated incidence of cystic fibrosis in Japan. JPediatr Gastroenterol Nutr 1997; 24: 544-47. 3.Hamosh A, Fitzsimmons SC, Macek M Jr, Knowles MR, Ro-senstein BJ, Cutting GR. Comparison of the clinical manife-station of cystic fibrosis in black and white patients. J Pedi-atr1998; 132: 255-59. 4.Farrell PM. Improving the health of patients with cystic fibro-sis through newborn screening. Adv Ped 2000; 49: 115. 5.https://www.cff.org/2014-Annual-Data-Report.pdf 6.Clinical guidelines for the care of children with cystic fibro-sis 2014 www.rbht.nhs.uk/childrencf 7.Mogayzel PJ, Naureckas ET, Robinson KA, et al. Cystic fib-rosis pulmonary guidelines. Am J Respir Crit Care Med 2013;187: 680–89. 8.Smyth AR, Bell SC, Bojcin S, et al. European Cystic FibrosisSociety standards of care: best practice guidelines. Journalof Cystic Fibrosis 2014; 13: S23–S42. 9.Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for di-agnosis of cystic fibrosis in newborns through older adults:Cystic Fibrosis Foundation Consensus Report. J Pediatr 2008;153 (2): 4–14. 10.Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis:a consensus statement. Cystic Fibrosis Foundation Consen-sus Panel. J Pediatr 1998; 132 (4): 589-95. 11.Nguyen TT, Thia LP, Hoo AF, et al. Evolution of lung func-tion during the first year of life in newborn screened cystic fib-rosis infants. Thorax 2014; 69 (10): 910-17. 12.Dijk FN, McKay K, Barzi F, Gaskin KJ, Fitzgerald DA. Im-proved survival in cystic fibrosis patients diagnosed by new-born screening compared to a historical cohort from the samecenter. Arch Dis Child 2011, 96 (12): 1118-23. 13.Ulusal Yenidoğan Tarama Programı Kistik Fibrozis Tarama-sı Ter Testi Rehberi. http://cocukergen.thsk.saglik.gov.tr/bil-gi-dokumanlar/kitaplar/1002-yenidoğan-tarama-programı-kistik-fibrozis-taraması-ter-testi-rehberi.html 14.Wagener JS, Sontag MK, Accurso F. Newborn screening forcystic fibrosis. Curr Opin Pediatr 2003; 15: 309-15.15.Rusakow LS, Abman SH, Sokol RJ, Seltzer W, Hammond K,Accurso FJ. Immunoreactive trypsinogen levels in infants withcystic fibrosis complicated by meconium ileus. Screening 1993;2: 13-17. 16.Comeau AM, Parad RB, Dorkin HL, et al. Population-basednewborn screening for genetic disorders when multiple muta-tion DNA testing is incorporated: a cystic fibrosis newborn scree-ning model demonstrating increased sensitivity but more car-rier detections. Pediatrics 2004; 113: 1573-81. 17.Rock MJ, Mischler EH, Farrell PM, Bruns WT, Hassemer DJ,Laessig RH. Immunoreactive trypsinogen screening for cysticfibrosis: characterization of infants with a false-positive scree-ning test. Pediatr Pulmonol 1989; 6: 42-48. 18.Kistik fibrosis yenidoğan tarama testi ile tanı alan hastalarıizleme rehberi. http://cocukergen.thsk.saglik.gov.tr/bilgi-do-kumanlar/kitaplar/1001-kistik-fibrozis-yenidoğan-tarama-testi-ile-tanı-alan-hastaları-izleme-rehberi.html19.Harpin VA, Rutter N. Sweating in preterm infants. J Pediatr1982; 100: 614-18. 20.Hardy JD, Davison SH, Higgins MU, Polycarpou PN. Sweat testsin the newborn period. Arch Dis Child 1973; 48: 316-18. 21.Desmarquest P, Feldmann D, Tamalat A, et al. Genotype analy-sis and phenotypic manifestations of children with intermediate swe-at chloride test results. Chest 2000; 118: 1591-97. 22.Prasad A, Main E, Dodd ME. Finding consensus on the physi-otherapy management of asymptomatic infants with cystic fib-rosis. Pediatr Pulmonol 2008; 43: 236–44. 23.Prasad A, Main E. Routine airway clearance in asymptomaticinfants and babies with cystic with cystic fibrosis in the UK: ob-ligatory or obsolete? Phys Ther 2006; 11: 11–20. 24.Jones AP, Wallis CE. Dornase alfa for cystic fibrosis. Coch-rane Database Syst Rev 2010; 3: CD001127. 25.Konstan MW, Wagener JS, Pasta DJ, et al. Clinical use of dor-nase alfa is associated with a slower rate of FEV1 decline incystic fibrosis. Pediatr Pulmonol 2011; 46: 545–53. 26.Heijerman H, Westerman E, Conway S, Touw D, Döring G;consensus working group. Consensus Working Group. Inha-led medication and inhalation devices for lung disease in pa-tients with cystic fibrosis: An European consensus. J Cyst Fib-ros 2009; 8: 295–315. 27.Donaldson SH, Bennett WD, Zeman KL, Knowles MR, Tar-ran R, Boucher RC. Mucus clearance and lung function incystic fibrosis with hypertonic saline. N Engl J Med 2006;354(3): 241-50. 28.Nolan SJ, Thornton J, Murray CS, Dwyer T. Inhaled manni-tol for cystic fibrosis. Cochrane database Syst Rev 2015; 10:CD008649. 29.Bilton D, Robinson P, Cooper P, et al. Inhaled dry powder man-nitol in cystic fibrosis: an efficacy and safety study. Eur Res-pir J 2011; 38: 1071–80. 30.Mogayzel PJ Jr, ET Naureckas, Robinson KA, et al. Cystic Fib-rosis Foundation pulmonary guideline. Pharmacologic approac-hes to prevention and eradication of initial pseudomonas aerugi-nosa infection. Ann Am Thorac Soc 2014; 11: 1640-50. 31.Sermet-Gaudelus I, Mayell SJ, Southern KW; EuropeanCys-tic Fibrosis Society (ECFS), Neonatal Screening Working Gro-up. Guidelines on the early management of infants diagnosedwith cystic fibrosis following newborn screening. J Cyst Fib-ro 2010; 9 (5): 323-29. 32.Mogayzel PJ Jr, Naureckas ET, Robinson KA, et al. Cystic fib-rosis pulmonary guidelines. Chronic medications for mainte-nance of lung health. Am J Respir Crit Care Med 2013; 187:680-89. 33.Ratjen F, Munck A, Kho P, Angyalosi G; ELITE Study Gro-up. Treatment of early Pseudomonas aeruginosa infection inpatients with cystic fibrosis: the ELITE trial. Thorax 2010; 65:286–91. 34.Treggiari MM, Rosenfeld M, Mayer-Hamblett N, et al. Earlyanti-pseudomonal acquisition in young patients with cystic fib-rosis: rationale and design of the EPIC clinical trial and ob-servational study. Contemp Clin Trials 2009; 30: 256-68. 35.Proesman M, Vermeulen F, Boulanger L, Verhaegen J, De Bo-eck K. Comparison of two treatment regimens for eradicati-on of pseudomonas aeruginosa infection in children with cysticfibrosis. J Cyst Fibros 2013; 12: 29-34. 36.Konstan MW, Flume PA, Galeva I, et al. One-year safety andefficacy of tobramycin powder for inhalation in patients withcystic fibrosis. Pediatr Pulmonol 2016; 51: 372-78. 37.Assael BM, Pressler T, Bilton D, et al. Active Comparator StudyGroup. Inhaled aztreonam lysine vs. inhaled tobramycin incystic fibrosis: a comparative efficacy trial. J Cyst Fibros 2013,12 (2): 130-40. 38.Schuster A, Haliburn C, Doring G, Goldman MH, FreedomStudy Group. Safety, efficacy and convenience of colistimet-hate sodium dry powder for inhalation (Colobreathe DPI) inpatients with cystic fibrosis: a randomised study. Thorax 2013;68: 344-50. 39.Elborn JS, Flume PA, Cohen F, Loutit J, VanDevanter DR.Safety and efficacy of prolonged levofloxacin inhalation so-lution (APT-1026) treatment for cystic fibrosis and chronicPseudomonas aeruginosa airway infection. J Cystic Fibros2016, S1569-1993 (16) 00012-6. doi: 10.1016/j.jcf.2016.01.005. 40.Ramsey BW, Davies J, McElvaney NG, et al.; VX08-770-102Study Group. A CFTR potentiator in patients with cystic fib-rosis and the G551D mutation. N Engl J Med 2013; 365 (18):1663-72. 41.Taylor-Cousar J, Niknian M, Gilmartin G, Pilewski JM; VX11-770-901 investigators. Effect of ivacaftor in patients with ad-vanced cystic fibrosis and a G551D-CFTR mutation: Safetyand efficacy in an expanded access program in the United Sta-tes. J Cyst Fibros 2016; 15 (1): 116-22. 42.Wainwright CE, Elborn JS, Ramsey BW, et al; TRAFFIC StudyGroup; TRANSPORT Study Group. Lumacaftor-Ivacaftor in Pa-tients with Cystic Fibrosis Homozygous for Phe508del CFTR.N Engl J Med 2015; 16; 373 (3): 220-31. 43.Kerem E, Konstan MW, De Boeck K, et al; Cystic Fibrosis Ata-luren Study Group. Ataluren for the treatment of nonsense-muta-tion cystic fibrosis: a randomised, double-blind, placebo-control-led phase 3 trial. Lancet Respir Med 2014; 2 (7): 539-47. 44.Alton EW, Armstrong DK, Ashby D, et al; UK Cystic Fibro-sis Gene Therapy Consortium. Repeated nebulisation ofnon-viral CFTR gene therapy in patients with cystic fibrosis:a randomised, double-blind, placebo-controlled, phase 2b tri-al. Lancet Respir Med 2015; 3 (9): 684-91.
Year 2016,
Volume: 8 Issue: 5, 25 - 34, 06.09.2016
Abstract
Öz
Kistik Fibrozis (KF), otozomal resesif geçiş gösteren, beyaz ırkın en sık rastlanan öldürücü genetik hastalığıdır. Hastalığın sıklığı ülkeden ülkeye değişmektedir.KF ülkemizde Ocak 2015’ten itibaren Sağlık Bakanlığı yenidoğan tarama programı-na alınmıştır. Hastalığın tanısında klinik özelliklerin yanında laboratuvar büyük önemtaşımaktadır. Hastalığın tedavisindeki ilerlemelerle birlikte beklenen yaşam süreleri 40 yıla kadar uzamıştır. Bu bölümde hastalığın tanı ve tedavisindeki yenilikler gözden geçirilecektir.
References
- Kaynaklar 1.Gürson CT, Sertel H, Gürkan M, Pala S. Newborn screeningfor cystic fibrosis with the chloride electrode and neutron ac-tivation analysis. Helv Paediatr Acta 1973; 28: 165-74. 2.Yamashiro Y, Shimizu T, Oguchi S, Shioya T, Nagata S, Oht-sukaY. The estimated incidence of cystic fibrosis in Japan. JPediatr Gastroenterol Nutr 1997; 24: 544-47. 3.Hamosh A, Fitzsimmons SC, Macek M Jr, Knowles MR, Ro-senstein BJ, Cutting GR. Comparison of the clinical manife-station of cystic fibrosis in black and white patients. J Pedi-atr1998; 132: 255-59. 4.Farrell PM. Improving the health of patients with cystic fibro-sis through newborn screening. Adv Ped 2000; 49: 115. 5.https://www.cff.org/2014-Annual-Data-Report.pdf 6.Clinical guidelines for the care of children with cystic fibro-sis 2014 www.rbht.nhs.uk/childrencf 7.Mogayzel PJ, Naureckas ET, Robinson KA, et al. Cystic fib-rosis pulmonary guidelines. Am J Respir Crit Care Med 2013;187: 680–89. 8.Smyth AR, Bell SC, Bojcin S, et al. European Cystic FibrosisSociety standards of care: best practice guidelines. Journalof Cystic Fibrosis 2014; 13: S23–S42. 9.Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for di-agnosis of cystic fibrosis in newborns through older adults:Cystic Fibrosis Foundation Consensus Report. J Pediatr 2008;153 (2): 4–14. 10.Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis:a consensus statement. Cystic Fibrosis Foundation Consen-sus Panel. J Pediatr 1998; 132 (4): 589-95. 11.Nguyen TT, Thia LP, Hoo AF, et al. Evolution of lung func-tion during the first year of life in newborn screened cystic fib-rosis infants. Thorax 2014; 69 (10): 910-17. 12.Dijk FN, McKay K, Barzi F, Gaskin KJ, Fitzgerald DA. Im-proved survival in cystic fibrosis patients diagnosed by new-born screening compared to a historical cohort from the samecenter. Arch Dis Child 2011, 96 (12): 1118-23. 13.Ulusal Yenidoğan Tarama Programı Kistik Fibrozis Tarama-sı Ter Testi Rehberi. http://cocukergen.thsk.saglik.gov.tr/bil-gi-dokumanlar/kitaplar/1002-yenidoğan-tarama-programı-kistik-fibrozis-taraması-ter-testi-rehberi.html 14.Wagener JS, Sontag MK, Accurso F. Newborn screening forcystic fibrosis. Curr Opin Pediatr 2003; 15: 309-15.15.Rusakow LS, Abman SH, Sokol RJ, Seltzer W, Hammond K,Accurso FJ. Immunoreactive trypsinogen levels in infants withcystic fibrosis complicated by meconium ileus. Screening 1993;2: 13-17. 16.Comeau AM, Parad RB, Dorkin HL, et al. Population-basednewborn screening for genetic disorders when multiple muta-tion DNA testing is incorporated: a cystic fibrosis newborn scree-ning model demonstrating increased sensitivity but more car-rier detections. Pediatrics 2004; 113: 1573-81. 17.Rock MJ, Mischler EH, Farrell PM, Bruns WT, Hassemer DJ,Laessig RH. Immunoreactive trypsinogen screening for cysticfibrosis: characterization of infants with a false-positive scree-ning test. Pediatr Pulmonol 1989; 6: 42-48. 18.Kistik fibrosis yenidoğan tarama testi ile tanı alan hastalarıizleme rehberi. http://cocukergen.thsk.saglik.gov.tr/bilgi-do-kumanlar/kitaplar/1001-kistik-fibrozis-yenidoğan-tarama-testi-ile-tanı-alan-hastaları-izleme-rehberi.html19.Harpin VA, Rutter N. Sweating in preterm infants. J Pediatr1982; 100: 614-18. 20.Hardy JD, Davison SH, Higgins MU, Polycarpou PN. Sweat testsin the newborn period. Arch Dis Child 1973; 48: 316-18. 21.Desmarquest P, Feldmann D, Tamalat A, et al. Genotype analy-sis and phenotypic manifestations of children with intermediate swe-at chloride test results. Chest 2000; 118: 1591-97. 22.Prasad A, Main E, Dodd ME. Finding consensus on the physi-otherapy management of asymptomatic infants with cystic fib-rosis. Pediatr Pulmonol 2008; 43: 236–44. 23.Prasad A, Main E. Routine airway clearance in asymptomaticinfants and babies with cystic with cystic fibrosis in the UK: ob-ligatory or obsolete? Phys Ther 2006; 11: 11–20. 24.Jones AP, Wallis CE. Dornase alfa for cystic fibrosis. Coch-rane Database Syst Rev 2010; 3: CD001127. 25.Konstan MW, Wagener JS, Pasta DJ, et al. Clinical use of dor-nase alfa is associated with a slower rate of FEV1 decline incystic fibrosis. Pediatr Pulmonol 2011; 46: 545–53. 26.Heijerman H, Westerman E, Conway S, Touw D, Döring G;consensus working group. Consensus Working Group. Inha-led medication and inhalation devices for lung disease in pa-tients with cystic fibrosis: An European consensus. J Cyst Fib-ros 2009; 8: 295–315. 27.Donaldson SH, Bennett WD, Zeman KL, Knowles MR, Tar-ran R, Boucher RC. Mucus clearance and lung function incystic fibrosis with hypertonic saline. N Engl J Med 2006;354(3): 241-50. 28.Nolan SJ, Thornton J, Murray CS, Dwyer T. Inhaled manni-tol for cystic fibrosis. Cochrane database Syst Rev 2015; 10:CD008649. 29.Bilton D, Robinson P, Cooper P, et al. Inhaled dry powder man-nitol in cystic fibrosis: an efficacy and safety study. Eur Res-pir J 2011; 38: 1071–80. 30.Mogayzel PJ Jr, ET Naureckas, Robinson KA, et al. Cystic Fib-rosis Foundation pulmonary guideline. Pharmacologic approac-hes to prevention and eradication of initial pseudomonas aerugi-nosa infection. Ann Am Thorac Soc 2014; 11: 1640-50. 31.Sermet-Gaudelus I, Mayell SJ, Southern KW; EuropeanCys-tic Fibrosis Society (ECFS), Neonatal Screening Working Gro-up. Guidelines on the early management of infants diagnosedwith cystic fibrosis following newborn screening. J Cyst Fib-ro 2010; 9 (5): 323-29. 32.Mogayzel PJ Jr, Naureckas ET, Robinson KA, et al. Cystic fib-rosis pulmonary guidelines. Chronic medications for mainte-nance of lung health. Am J Respir Crit Care Med 2013; 187:680-89. 33.Ratjen F, Munck A, Kho P, Angyalosi G; ELITE Study Gro-up. Treatment of early Pseudomonas aeruginosa infection inpatients with cystic fibrosis: the ELITE trial. Thorax 2010; 65:286–91. 34.Treggiari MM, Rosenfeld M, Mayer-Hamblett N, et al. Earlyanti-pseudomonal acquisition in young patients with cystic fib-rosis: rationale and design of the EPIC clinical trial and ob-servational study. Contemp Clin Trials 2009; 30: 256-68. 35.Proesman M, Vermeulen F, Boulanger L, Verhaegen J, De Bo-eck K. Comparison of two treatment regimens for eradicati-on of pseudomonas aeruginosa infection in children with cysticfibrosis. J Cyst Fibros 2013; 12: 29-34. 36.Konstan MW, Flume PA, Galeva I, et al. One-year safety andefficacy of tobramycin powder for inhalation in patients withcystic fibrosis. Pediatr Pulmonol 2016; 51: 372-78. 37.Assael BM, Pressler T, Bilton D, et al. Active Comparator StudyGroup. Inhaled aztreonam lysine vs. inhaled tobramycin incystic fibrosis: a comparative efficacy trial. J Cyst Fibros 2013,12 (2): 130-40. 38.Schuster A, Haliburn C, Doring G, Goldman MH, FreedomStudy Group. Safety, efficacy and convenience of colistimet-hate sodium dry powder for inhalation (Colobreathe DPI) inpatients with cystic fibrosis: a randomised study. Thorax 2013;68: 344-50. 39.Elborn JS, Flume PA, Cohen F, Loutit J, VanDevanter DR.Safety and efficacy of prolonged levofloxacin inhalation so-lution (APT-1026) treatment for cystic fibrosis and chronicPseudomonas aeruginosa airway infection. J Cystic Fibros2016, S1569-1993 (16) 00012-6. doi: 10.1016/j.jcf.2016.01.005. 40.Ramsey BW, Davies J, McElvaney NG, et al.; VX08-770-102Study Group. A CFTR potentiator in patients with cystic fib-rosis and the G551D mutation. N Engl J Med 2013; 365 (18):1663-72. 41.Taylor-Cousar J, Niknian M, Gilmartin G, Pilewski JM; VX11-770-901 investigators. Effect of ivacaftor in patients with ad-vanced cystic fibrosis and a G551D-CFTR mutation: Safetyand efficacy in an expanded access program in the United Sta-tes. J Cyst Fibros 2016; 15 (1): 116-22. 42.Wainwright CE, Elborn JS, Ramsey BW, et al; TRAFFIC StudyGroup; TRANSPORT Study Group. Lumacaftor-Ivacaftor in Pa-tients with Cystic Fibrosis Homozygous for Phe508del CFTR.N Engl J Med 2015; 16; 373 (3): 220-31. 43.Kerem E, Konstan MW, De Boeck K, et al; Cystic Fibrosis Ata-luren Study Group. Ataluren for the treatment of nonsense-muta-tion cystic fibrosis: a randomised, double-blind, placebo-control-led phase 3 trial. Lancet Respir Med 2014; 2 (7): 539-47. 44.Alton EW, Armstrong DK, Ashby D, et al; UK Cystic Fibro-sis Gene Therapy Consortium. Repeated nebulisation ofnon-viral CFTR gene therapy in patients with cystic fibrosis:a randomised, double-blind, placebo-controlled, phase 2b tri-al. Lancet Respir Med 2015; 3 (9): 684-91.
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Details
| Primary Language | Turkish |
|---|---|
| Journal Section | makale |
| Authors | |
| Publication Date | September 6, 2016 |
| Published in Issue | Year 2016 Volume: 8 Issue: 5 |
