References:
1. Dana J, Debray D, Beaufrère A, et al. Cystic fibrosis-related liver disease: clinical presentations, diagnostic and monitoring approaches in the era of CFTR modulator therapies. Journal of Hepatology.2022;76(2):420-434.
2. Wu H, Vu M, Dhingra S, et al. Obliterative portal venopathy without cirrhosis is prevalent in pediatric cystic fibrosis liver disease with portal hypertension. Clinical Gastroenterology and Hepatology.2019;17(10):2134-2136.
3. Witters P, Libbrecht L, Roskams T, et al. Liver disease in cystic fibrosis presents as non-cirrhotic portal hypertension. Journal of Cystic Fibrosis. 2017;16(5):e11-e13.
4. Lindblad A, Glaumann H, Strandvik B. Natural history of liver disease in cystic fibrosis. Hepatology. 1999;30(5):1151-1158.
5. Stonebraker JR, Ooi CY, Pace RG, et al. Features of severe liver disease with portal hypertension in patients with cystic fibrosis.Clinical Gastroenterology and Hepatology. 2016;14(8):1207-1215. e1203.
6. Colombo C, Battezzati PM, Crosignani A, et al. Liver disease in cystic fibrosis: a prospective study on incidence, risk factors, and outcome. Hepatology. 2002;36(6):1374-1382.
7. Boëlle PY, Debray D, Guillot L, Clement A, Corvol H, Investigators FCMGS. Cystic fibrosis liver disease: outcomes and risk factors in a large cohort of French patients. Hepatology.2019;69(4):1648-1656.
8. Lamireau T, Monnereau S, Martin S, Marcotte J-E, Winnock M, Alvarez F. Epidemiology of liver disease in cystic fibrosis: a longitudinal study. Journal of hepatology. 2004;41(6):920-925.
9. Rowland M, Drummond J, Connolly L, et al. The natural history of cystic fibrosis liver disease a prospective cohort study. Journal of Cystic Fibrosis. 2023.
10. Vawter GF, Shwachman H. Cystic fibrosis in adults: an autopsy study.Pathology annual. 1979;14:357-382.
11. Debray D, Kelly D, Houwen R, Strandvik B, Colombo C. Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. Journal of Cystic Fibrosis. 2011;10:S29-S36.
12. Mueller-Abt PR, Frawley KJ, Greer RM, Lewindon PJ. Comparison of ultrasound and biopsy findings in children with cystic fibrosis related liver disease. Journal of Cystic Fibrosis. 2008;7(3):215-221.
13. Debray D, Narkewicz MR, Bodewes FA, et al. Cystic fibrosis–related liver disease: research challenges and future perspectives.Journal of pediatric gastroenterology and nutrition.2017;65(4):443-448.
14. CFF. https://www.cff.org/medical-professionals/patient-registry. Published 2021. Accessed July 28, 2023.
15. Baldissera M, Lewindon PJ, Ramm LE, Hartel GF, Mattiello R, Ramm GA. Advanced but not mild liver disease is a predictor of decreased survival in children with cystic fibrosis, with far greater impact in females: A 27-year real-life cohort study. Journal of Cystic Fibrosis.2022;21(2):230-235.
16. Sherwood JS, Ullal J, Kutney K, Hughan KS. Cystic fibrosis related liver disease and endocrine considerations. Journal of Clinical & Translational Endocrinology. 2022;27:100283.
17. Chryssostalis A, Hubert D, Coste J, et al. Liver disease in adult patients with cystic fibrosis: a frequent and independent prognostic factor associated with death or lung transplantation. Journal of hepatology. 2011;55(6):1377-1382.
18. Toledano M, Mukherjee S, Howell J, et al. The emerging burden of liver disease in cystic fibrosis patients: A UK nationwide study.PLoS One. 2019;14(4):e0212779.
19. Koh C, Sakiani S, Surana P, et al. Adult‐onset cystic fibrosis liver disease: diagnosis and characterization of an underappreciated entity.Hepatology. 2017;66(2):591-601.
20. Martínez-Lázaro AM, Moreno RMG, Seoane FC, et al. Cystic fibrosis with liver involvement in adults has a benign course. Results from a tertiary referral centre cohort. Revista espanola de enfermedades digestivas: organo oficial de la Sociedad Espanola de Patologia Digestiva. 114.
21. Wood M, Babowicz F, Kennedy AG, et al. Incidence of transaminitis in adults with cystic fibrosis taking elexacaftor/tezacaftor/ivacaftor.Journal of the American Pharmacists Association.2023;63(3):920-924.
22. Tewkesbury DH, Athwal V, Bright-Thomas RJ, Jones AM, Barry PJ. Longitudinal effects of elexacaftor/tezacaftor/ivacaftor on liver tests at a large single adult cystic fibrosis centre. Journal of Cystic Fibrosis. 2023;22(2):256-262.
23. Scott J, Jones AM, Piper Hanley K, Athwal VS. epidemiology, pathogenesis and management of liver disease in adults with cystic fibrosis. Alimentary Pharmacology & Therapeutics.2022;55(4):389-400.
24. Calvopina DA, Coleman MA, Lewindon PJ, Ramm GA. Function and regulation of microRNAs and their potential as biomarkers in paediatric liver disease. International journal of molecular sciences.2016;17(11):1795.
25. Lewindon PJ, Shepherd RW, Walsh MJ, et al. Importance of hepatic fibrosis in cystic fibrosis and the predictive value of liver biopsy.Hepatology. 2011;53(1):193-201.
26. Maharaj B, Leary W, Naran A, et al. Sampling variability and its influence on the diagnostic yield of percutaneous needle biopsy of the liver. The Lancet. 1986;327(8480):523-525.
27. Sellers ZM, Lee LW, Barth RA, Milla C. New algorithm for the integration of ultrasound into cystic fibrosis liver disease screening.Journal of Pediatric Gastroenterology and Nutrition.2019;69(4):404-410.
28. Loomba R, Adams LA. Advances in non-invasive assessment of hepatic fibrosis. Gut. 2020;69(7):1343-1352.
29. Karnsakul W, Wasuwanich P, Ingviya T, et al. A longitudinal assessment of non-invasive biomarkers to diagnose and predict cystic fibrosis-associated liver disease. Journal of Cystic Fibrosis.2020;19(4):546-552.
30. Bodewes FA, van der Doef HP, Houwen RH, Verkade HJ. Increase of serum γ-glutamyltransferase associated with development of cirrhotic cystic fibrosis liver disease. Journal of Pediatric Gastroenterology and Nutrition. 2015;61(1):113-118.
31. Leung DH, Khan M, Minard CG, et al. Aspartate aminotransferase to platelet ratio and fibrosis‐4 as biomarkers in biopsy‐validated pediatric cystic fibrosis liver disease. Hepatology.2015;62(5):1576-1583.
32. Sellers ZM. Barrier to using APRI and GPR as identifiers of cystic fibrosis liver disease. Journal of Cystic Fibrosis.2021;20(3):551.
33. Calvopina DA, Lewindon PJ, Ramm LE, et al. Gamma-glutamyl transpeptidase-to-platelet ratio as a biomarker of liver disease and hepatic fibrosis severity in paediatric cystic fibrosis. Journal of Cystic Fibrosis. 2022;21(2):236-242.
34. Enaud R, Frison E, Missonnier S, et al. Cystic fibrosis and noninvasive liver fibrosis assessment methods in children.Pediatric Research. 2022;91(1):223-229.
35. McGoogan KE, Smith PB, Choi SS, Berman W, Jhaveri R. Performance of the AST to platelet ratio index (APRI) as a noninvasive marker of fibrosis in pediatric patients with chronic viral hepatitis.Journal of pediatric gastroenterology and nutrition.2010;50(3):344.
36. Schiavon LL, Schiavon JL, Carvalho Filho RJ, et al. Simple blood tests as noninvasive markers of liver fibrosis in hemodialysis patients with chronic hepatitis C virus infection. Hepatology.2007;46(2):307-314.
37. Williams AL, Hoofnagle JH. Ratio of serum aspartate to alanine aminotransferase in chronic hepatitis relationship to cirrhosis.Gastroenterology. 1988;95(3):734-739.
38. Anstee QM, Castera L, Loomba R. Impact of non-invasive biomarkers on hepatology practice: past, present and future. Journal of hepatology. 2022;76(6):1362-1378.
39. Klotter V, Gunchick C, Siemers E, et al. Assessment of pathologic increase in liver stiffness enables earlier diagnosis of CFLD: results from a prospective longitudinal cohort study. PloS one.2017;12(6):e0178784.
40. Sadler MD, Crotty P, Fatovich L, Wilson S, Rabin HR, Myers RP. Noninvasive methods, including transient elastography, for the detection of liver disease in adults with cystic fibrosis. Canadian Journal of Gastroenterology and Hepatology. 2015;29:139-144.
41. Lewindon PJ, Puertolas-Lopez MV, Ramm LE, et al. Accuracy of transient elastography data combined with APRI in detection and staging of liver disease in pediatric patients with cystic fibrosis.Clinical Gastroenterology and Hepatology. 2019;17(12):2561-2569. e2565.
42. Van Biervliet S, Verdievel H, Velde SV, et al. Longitudinal transient elastography measurements used in follow-up for patients with cystic fibrosis. Ultrasound in Medicine & Biology.2016;42(4):848-854.
43. Alexopoulou A, Pouriki S, Vasilieva L, et al. Evaluation of noninvasive markers for the diagnosis of cystic fibrosis liver disease.Scandinavian Journal of Gastroenterology. 2018;53(12):1547-1552.
44. Ling SC, Ye W, Leung DH, et al. Liver ultrasound patterns in children with cystic fibrosis correlate with non-invasive tests of liver disease. Journal of pediatric gastroenterology and nutrition.2019;69(3):351.
45. Woodruff SA, Sontag MK, Accurso FJ, Sokol RJ, Narkewicz MR. Prevalence of elevated liver enzymes in children with cystic fibrosis diagnosed by newborn screen. Journal of Cystic Fibrosis.2017;16(1):139-145.
46. Middleton PG, Mall MA, Dřevínek P, et al. Elexacaftor–tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele. New England Journal of Medicine.2019;381(19):1809-1819.
47. Chen Z, Ma Y, Cai J, et al. Serum biomarkers for liver fibrosis.Clinica Chimica Acta. 2022.
48. Pereira TN, Lewindon PJ, Smith JL, et al. Serum markers of hepatic fibrogenesis in cystic fibrosis liver disease. Journal of hepatology. 2004;41(4):576-583.
49. Rath T, Menendez KM, Kügler M, et al. TIMP-1/-2 and transient elastography allow non invasive diagnosis of cystic fibrosis associated liver disease. Digestive and Liver Disease. 2012;44(9):780-787.
50. Rath T, Hage L, Kügler M, et al. Serum proteome profiling identifies novel and powerful markers of cystic fibrosis liver disease. PloS one. 2013;8(3):e58955.
51. Cook NL, Pereira TN, Lewindon PJ, Shepherd RW, Ramm GA. Circulating microRNAs as noninvasive diagnostic biomarkers of liver disease in children with cystic fibrosis. Journal of pediatric gastroenterology and nutrition. 2015;60(2):247-254.
52. Calvopina DA, Chatfield MD, Weis A, et al. MicroRNA sequencing identifies a serum microRNA panel, which combined with aspartate aminotransferase to platelet ratio index can detect and monitor liver disease in pediatric cystic fibrosis. Hepatology.2018;68(6):2301-2316.
53. Gaggar A, Hector A, Bratcher PE, Mall MA, Griese M, Hartl D. The role of matrix metalloproteinases in cystic fibrosis lung disease.European Respiratory Journal. 2011;38(3):721-727.
54. Galkina SI, Fedorova NV, Ksenofontov AL, et al. Inhibitor of Hyaluronic Acid Synthesis 4-Methylumbelliferone Suppresses the Secretory Processes That Ensure the Invasion of Neutrophils into Tissues and Induce Inflammation. Biomedicines. 2022;10(2):314.
55. Dickinson RS, Murphy F, Doherty C, et al. Pseudomonas expression of an oxygen sensing prolyl hydroxylase homologue regulates neutrophil host responses in vitro and in vivo. Wellcome Open Research. 2017;2.
56. Valamparampil JJ, Gupte GL. Cystic fibrosis associated liver disease in children. World Journal of Hepatology. 2021;13(11):1727.
57. Leung DH, Narkewicz MR. Cystic fibrosis-related cirrhosis.Journal of Cystic Fibrosis. 2017;16:S50-S61.
58. Lenaerts C, Lapierre C, Patriquin H, et al. Surveillance for cystic fibrosis-associated hepatobiliary disease: early ultrasound changes and predisposing factors. The Journal of pediatrics.2003;143(3):343-350.
59. Siegel MJ FA, Ye W, Palermo JJ, Molleston JP, Paranjape SM, Stoll J, Leung DH, Masand P, Karmazyn B, Harned R, Ling SC, Navarro OM, Karnsakul W, Alazraki A, Schwarzenberg SJ, Seidel FG, Towbin A, Alonso EM, Nicholas JL, Murray KF, Otto RK, Sherker AH, Magee JC, Narkewicz MR; CFLD Network. Heterogeneous Liver on Research Ultrasound Identifies Children with Cystic Fibrosis at High Risk of Advanced Liver Disease: Interim Results of a Prospective Observational Case-Controlled Study.J Pediatr. 2020;219 62-69.e64.
60. Siegel MJ, Leung DH, Molleston JP, et al. Heterogeneous liver on research ultrasound identifies children with cystic fibrosis at high risk of advanced liver disease. Journal of Cystic Fibrosis. 2023.
61. Leung DH, Ye W, Schwarzenberg SJ, et al. Long-term follow-up and liver outcomes in children with cystic fibrosis and nodular liver on ultrasound in a multi-center study. Journal of Cystic Fibrosis.2023;22(2):248-255.
62. Lam S, Nettel-Aguirre A, Van Biervliet S, et al. Transient elastography in the evaluation of cystic fibrosis–associated liver disease: systematic review and meta-analysis. Journal of the Canadian Association of Gastroenterology. 2019;2(2):71-80.
63. Rowland M, McGee A, Broderick A, et al. Repeatability of transient elastography in children. Pediatric Research. 2020;88(4):587-592.
64. Calvopina DA, Noble C, Weis A, et al. Supersonic shear-wave elastography and APRI for the detection and staging of liver disease in pediatric cystic fibrosis. Journal of Cystic Fibrosis.2020;19(3):449-454.
65. Levitte S, Lee LW, Isaacson J, et al. Clinical use of shear-wave elastography for detecting liver fibrosis in children and adolescents with cystic fibrosis. Pediatric radiology. 2021;51:1369-1377.
66. Patel K, Sebastiani G. Limitations of non-invasive tests for assessment of liver fibrosis. JHEP Reports. 2020;2(2):100067.
67. Dana J, Girard M, Franchi-Abella S, et al. Comparison of Transient Elastography, ShearWave Elastography, Magnetic Resonance Elastography and FibroTest as routine diagnostic markers for assessing liver fibrosis in children with Cystic Fibrosis. Clinics and Research in Hepatology and Gastroenterology. 2022;46(3):101855.
68. Uchida H, Sakamoto S, Kobayashi M, et al. The degree of spleen stiffness measured on acoustic radiation force impulse elastography predicts the severity of portal hypertension in patients with biliary atresia after portoenterostomy. Journal of pediatric surgery.2015;50(4):559-564.
69. Singh S, Eaton JE, Murad MH, Tanaka H, Iijima H, Talwalkar JA. Accuracy of spleen stiffness measurement in detection of esophageal varices in patients with chronic liver disease: systematic review and meta-analysis. Clinical Gastroenterology and Hepatology.2014;12(6):935-945. e934.
70. Cañas T, Maciá A, Muñoz-Codoceo RA, et al. Hepatic and splenic acoustic radiation force impulse shear wave velocity elastography in children with liver disease associated with cystic fibrosis.BioMed research international. 2015;2015.
71. Kobelska-Dubiel N, Klincewicz B, Cichy W. Liver disease in cystic fibrosis. Gastroenterology Review/Przegląd Gastroenterologiczny.2014;9(3):136-141.
72. Boëlle P-Y, Debray D, Guillot L, Corvol H, Investigators FCMGS. SERPINA1 Z allele is associated with cystic fibrosis liver disease.Genetics in Medicine. 2019;21(9):2151-2155.
73. Bartlett JR, Friedman KJ, Ling SC, et al. Genetic modifiers of liver disease in cystic fibrosis. Jama. 2009;302(10):1076-1083.
74. Balcar L, Scheiner B, Urheu M, et al. Alpha-1 antitrypsin Pi∗ Z allele is an independent risk factor for liver transplantation and death in patients with advanced chronic liver disease. JHEP Reports.2022;4(11):100562.
75. Trouvé P, Génin E, Férec C. In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis.PloS one. 2017;12(3):e0173822.
76. Decharatanachart P, Chaiteerakij R, Tiyarattanachai T, Treeprasertsuk S. Application of artificial intelligence in non-alcoholic fatty liver disease and liver fibrosis: a systematic review and meta-analysis. Therapeutic Advances in Gastroenterology. 2021;14:17562848211062807.
77. Imajo K, Kessoku T, Honda Y, et al. Magnetic resonance imaging more accurately classifies steatosis and fibrosis in patients with nonalcoholic fatty liver disease than transient elastography.Gastroenterology. 2016;150(3):626-637. e627.