1. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005;352(19):1992–2001
2. De Boeck K. Cystic fibrosis in the year 2020: a disease with a new face. Acta Paediatr. 2020;109(5):893–899
3. Leung DH, Heltshe SL, Borowitz D, et al; Baby Observational and Nutrition Study (BONUS) Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network. Effects of diagnosis by newborn screening for cystic fibrosis on weight and length in the first year of life. JAMA Pediatr. 2017;171(6):546–554
4. Sims EJ, Clark A, McCormick J, Mehta G, Connett G, Mehta A; United Kingdom Cystic Fibrosis Database Steering Committee. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics. 2007;119(1):19–28
5. Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017; 181S:S4–S15.e1
6. Borowitz D, Robinson KA, Rosenfeld M, et al; Cystic Fibrosis Foundation. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009;155 (6 suppl): S73–S93
7. Committee Opinion No. Committee Opinion No. 691: Carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3): e41–e55
8. McColley SA, Martiniano SL, Ren CL, et al. Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening. J Cyst Fibros. 2023;22(1):89–97 doi: 10.1016/
j.jcf.2022.07.010
9. Vaidyanathan S, Trumbull AM, Bar L, Rao M, Yu Y, Sellers ZM. CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis. Genet Med. 2022;24(10):2180–2186
10. Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn. 2008;10(4):368–375
11. Sanders DB, Zhang Z, Farrell PM, Lai HJ; Wisconsin CF Neonatal Screening Group. Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis. J Cyst Fibros. 2018; 17(4):528–535
12. Konstan MW, Butler SM, Wohl MEB, et al; Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis. Growth and nutritional indexes in early life predict pulmonary function in cystic fibrosis. J Pediatr. 2003;142(6):624–630
13. Heine RG, Button BM, Olinsky A, Phelan PD, Catto-Smith AG. Gastro-oesophageal reflux in infants under 6 months with cystic fibrosis. Arch Dis Child. 1998;78(1):44–48
14. Pauwels A, Blondeau K, Dupont LJ, Sifrim D. Mechanisms of increased gastroesophageal reflux in patients with cystic fibrosis. Am J Gastroenterol. 2012;107(9):1346–1353
15. Rosen R, Vandenplas Y, Singendonk M, et al. Pediatric Gastroesophageal Reflux Clinical Practice Guidelines: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. 2018;66(3):516–554
16. Freitas DA, Chaves GS, Santino TA, et al. Standard (head-down tilt) versus modified (without head-down tilt) postural drainage in infants and young children with cystic fibrosis. Cochrane Database Syst Rev. 2018;3(3):CD010297
17. Sheen E, Triadafilopoulos G. Adverse effects of long-term proton pump inhibitor therapy. Dig Dis Sci. 2011;56(4):931–950
18. Pohl JF, Patel R, Zobell JT, et al. Clostridium difficile infection and proton pump inhibitor use in hospitalized pediatric cystic fibrosis patients. Gastroenterol Res Pract. 2011; 2011:345012
19. McCrory BE, Harper HN, McPhail GL. Use and incidence of adverse effects of proton pump inhibitors in patients with cystic fibrosis. Pharmacotherapy. 2018;38(7):725–729
20. Boesch RP, Acton JD. Outcomes of fundoplication in children with cystic fibrosis. J Pediatr Surg. 2007;42(8):1341–1344
21. Sathe M, Houwen R. Meconium ileus in Cystic Fibrosis. J Cyst Fibros. 2017;16(Suppl 2): S32–S39
22. Carlyle BE, Borowitz DS, Glick PL. A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. J Pediatr Surg. 2012;47(4):772–781
23. Gelfond D, Borowitz D. Gastrointestinal complications of cystic fibrosis. Clin Gastroenterol Hepatol. 2013;11(4):333–342, quiz e30–e31
24. Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Patient Registry Annual Data Report 2010. Bethesda, MD: Cystic Fibrosis Foundation; 2010
25. Blackman SM, Deering-Brose R, McWilliams R, et al. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology. 2006;131(4): 1030–1039
26. Stanescu AL, Liszewski MC, Lee EY, Phillips GS. Neonatal gastrointestinal emergencies: step-by-step approach. Radiol Clin North Am. 2017;55(4):717–739
27. Scotet V, Dugueperoux I, Audrezet MP, et al. Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol. 2010;203(6): 592.e1–592.e6
28. Shen O, Rabinowitz R, Yagel S, Gal M. Absent gallbladder on fetal ultrasound: prenatal findings and postnatal outcome. Ultrasound Obstet Gynecol. 2011;37(6):673–677
29. Burke MS, Ragi JM, Karamanoukian HL, et al. New strategies in nonoperative management of meconium ileus. J Pediatr Surg. 2002;37(5):760–764
30. Karimi A, Gorter RR, Sleeboom C, Kneepkens CMF, Heij HA. Issues in the management of simple and complex meconium ileus. Pediatr Surg Int. 2011;27(9):963–968
31. Jawaheer J, Khalil B, Plummer T, et al. Primary resection and anastomosis for complicated meconium ileus: a safe procedure? Pediatr Surg Int. 2007;23(11):1091–1093
32. Del Pin CA, Czyrko C, Ziegler MM, Scanlin TF, Bishop HC. Management and survival of meconium ileus: a 30-year review. Ann Surg. 1992;215(2):179–185
33. Keckler SJ, St Peter SD, Spilde TL, et al. Current significance of meconium plug syndrome. J Pediatr Surg. 2008;43(5):896–898
34. Demeyer S, De Boeck K, Witters P, Cosaert K. Beyond pancreatic insufficiency and liver disease in cystic fibrosis. Eur J Pediatr. 2016;175(7):881–894
35. Kelly T, Buxbaum J. Gastrointestinal manifestations of cystic fibrosis. Dig Dis Sci. 2015;60(7):1903–1913
36. Duytschaever G, Huys G, Bekaert M, Boulanger L, De Boeck K, Vandamme P. Dysbiosis of bifidobacteria and Clostridium cluster XIVa in the cystic fibrosis fecal microbiota. J Cyst Fibros. 2013;12(3): 206–215
37. Hayden HS, Eng A, Pope CE, et al. Fecal dysbiosis in infants with cystic fibrosis is associated with early linear growth failure. Nat Med. 2020;26(2):215–221
38. Manor O, Levy R, Pope CE, et al. Metagenomic evidence for taxonomic dysbiosis and functional imbalance in the gastrointestinal tracts of children with cystic fibrosis. Sci Rep. 2016; 6:22493
39. De Lisle RC, Borowitz D. The cystic fibrosis intestine. Cold Spring Harb Perspect Med. 2013;3(9): a009753
40. Hoen AG, Li J, Moulton LA, et al. Associations between gut microbial colonization in early life and respiratory outcomes in cystic fibrosis. J Pediatr. 2015;167(1):138–147.e1-3
41. Coffey MJ, Garg M, Homaira N, Jaffe A, Ooi CY. Probiotics for people with cystic fibrosis. Cochrane Database Syst Rev. 2020; 1(1):CD012949
42. Anderson JL, Miles C, Tierney AC. Effect of probiotics on respiratory, gastrointestinal and nutritional outcomes in patients with cystic fibrosis: a systematic review. J Cyst Fibros. 2017;16(2): 186–197
43. Kulczycki LL, Shwachman H. Studies in cystic fibrosis of the pancreas; occurrence of rectal prolapse. N Engl J Med. 1958;259(9):409–412
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