Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia |
| |
| Affiliation: | 1. The University of Texas MD Anderson Cancer, Division of Cancer Medicine, 1515 Holcombe Blvd, Unit 463 FC11.3055, Houston, TX 77030;2. DDC Clinic, 14567 Madison Road, Middlefield, OH, 44062;3. Case Western Reserve University School of Medicine, Department of Genetics and Genome Sciences, Cleveland, OH 44106;4. University Hospitals Case Medical Center, Center for Human Genetics, 11100 Euclid Ave, Lakeside 1500, Cleveland, OH 44106;1. Columbia University Irving Medical Center, New York, NY, USA;2. Columbia University Mailman School of Public Health, New York, NY, USA;1. Case Western Reserve Univ. School of Medicine, Cleveland OH, USA;2. Univ. of Washington, Seattle WA, USA;3. CFF TDNCC, Seattle Children''s Hospital, Seattle WA, USA;4. Johns Hopkins University, Baltimore MD, USA;5. Indiana Univ. School of Medicine, Indianapolis IN, USA;6. Medical Univ. of South Carolina, Charleston SC, USA;1. Department of Respiratory Medicine, St. Vincent''s University Hospital, Dublin 4, Ireland;2. School of Medicine, University College Dublin, Dublin 4, Ireland;1. Division of Epidemiology and Public Health, Nottingham NIHR Biomedical Research Centre, University of Nottingham, City Hospital Campus, Nottingham, UK;2. National Biofilms Innovation Centre, Nottingham University Biodiscovery Institute, School of Life Sciences, University of Nottingham, Nottingham, UK;3. Institute of Pharmaceutical Science, King''s College London, London, UK;4. West Midlands Adult CF Centre, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK;5. Division of Respiratory Medicine, University of Nottingham, City Hospital Campus, Nottingham, UK;6. Thoracic Programme, The Prince Charles Hospital, Brisbane, Australia;7. School of Medicine, University of Nottingham, Nottingham, UK;8. Wolfson Cystic Fibrosis Centre, Department of Respiratory Medicine, Nottingham NIHR Biomedical Research Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK;9. Nottingham MRC Molecular Pathology Node, UK;10. UK NIHR Nottingham Biomedical Research Centre (BRC), Nottingham University Hospitals NHS Trust and University of Nottingham, Nottingham, UK;1. Infectious Diseases Implementation Research Division, Telethon Kids Institute, Nedlands 6009, Australia;2. Division of Paediatrics, Faculty of Medicine, University of Western Australia, Crawley 6009, Australia;3. Infectious Diseases Department, Perth Children''s Hospital, Nedlands 6009, Australia;4. Abilities Research Center, Department of Rehabilitation and Human Performance, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States;5. Respiratory Department, Sir Charles Gairdner Hospital, Nedlands 6009, Australia;6. Faculty of Health and Medical Sciences, University of Western Australia, Crawley 6009, Australia;7. Wal-yan Respiratory Research Centre, Telethon Kids Institute, University of Western Australia, Nedlands 6009, Australia;8. Department of Respiratory Medicine, Perth Children''s Hospital, Nedlands 6009, Australia;9. Sydney School of Public Health, The University of Sydney, Sydney 2052, Australia;10. Bayesian Intelligence, Upwey 3158, Australia;11. Evidence Based Child Health Group, School of Medicine, University of Nottingham, NottinghamNG7 2RD, United Kingdom;12. Wesfarmers Centre for Vaccines and Infectious Diseases, Telethon Kids Institute, Nedlands 6009, Australia;13. Pathwest Laboratory Medicine WA, QEII Medical Centre, Nedlands 6009, Australia;14. Department of Intensive Care, St John of God Hospital, Subiaco 6008, Australia;15. School of Population Health and Preventive Medicine, Monash University, St Kilda 3004, Australia;p. Menzies School of Health Research, Royal Darwin Hospital Campus, Tiwi 0810, Australia;q. School of Population Health, Curtin University, Bentley 6102, Australia |
| |
| Abstract: | CFTR mutation carriers, numbering 1 in 25 among Caucasians, have an increased risk of developing chronic pancreatitis due to the underlying dysfunction of ion channels created by the mutant allele. Carriers do not frequently manifest disease due to the remaining wild-type CFTR protein sufficiently maintaining normal pancreatic homeostasis. However, additional risk factors for pancreatitis, such as organic acidemias (as seen in our patient) that further impact function of pancreatic acinar cells can result in the precipitation of CFTR related pancreatitis. Here we report a CFTR carrier with methylmalonic acidemia who was treated with ivacaftor and subsequently experienced resolution of her chronic pancreatitis. Our report suggests that ivacaftor may rescue the function of mutant CFTR in carriers and treat pancreatitis caused by CFTR dysfunction in situations where there are additional precipitating factors. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
