簡介
-
囊腫纖維化（Cystic Fibrosis, CF）是白種人中最常見的致命性遺傳疾病，是一種構成生活障礙的體染色體隱性遺傳疾病，在歐洲、北美和澳洲盛行率最高。該病是由傳導氯離子的穿膜通道發生基因突變而引起的，該通道調節離子運輸並參與呼吸道及其他外分泌腺的黏液清除。因此會導致多個器官系統的外分泌腺功能障礙，造成慢性呼吸道感染、胰臟酶不足、不孕症，並於未經治療的病人出現相關併發症。末期肺部疾病是主要的死亡原因。大多數囊腫纖維化帶因者是無症狀的，因此產前診斷以及父母篩檢很重要，確定可能將突變遺傳給後代的風險。
-
Igenomix 囊腫纖維化精準檢測套組可用於篩檢及診斷，以便對該疾病進行更好的管理並達成更好的預後。本檢測利用次世代定序（NGS）對此疾病的相關基因進行全面分析，以充分了解相關基因的受影響程度。
Davis, P., Drumm, M., & Konstan, M. (1996). Cystic fibrosis. American Journal Of Respiratory And Critical Care Medicine, 154(5), 1229-1256. doi: 10.1164/ajrccm.154.5.8912731
Cystic Fibrosis Mutation Database: Statistics. (2021). Retrieved 19 February 2021, from http://www.genet.sickkids.on.ca/cftr/StatisticsPage.html
Elborn J. S. (2016). Cystic fibrosis. Lancet (London, England), 388(10059), 2519–2531. https://doi.org/10.1016/S0140-6736(16)00576-6
Cutting G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature reviews. Genetics, 16(1), 45–56. https://doi.org/10.1038/nrg3849
Hale, J., Parad, R., & Comeau, A. (2008). Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis. New England Journal Of Medicine, 358(9), 973-974. doi: 10.1056/nejmc0707530
Skov, M., Hansen, C. R., & Pressler, T. (2019). Cystic fibrosis – an example of personalized and precision medicine. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica, 127(5), 352–360. https://doi.org/10.1111/apm.12915
Comeau, A., Accurso, F., White, T., Campbell, P., Hoffman, G., & Parad, R. et al. (2007). Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report. PEDIATRICS, 119(2), e495-e518. doi: 10.1542/peds.2006-1993
Moskowitz, S. M., Chmiel, J. F., Sternen, D. L., Cheng, E., Gibson, R. L., Marshall, S. G., & Cutting, G. R. (2008). Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genetics in medicine : official journal of the American College of Medical Genetics, 10(12), 851–868. https://doi.org/10.1097/GIM.0b013e31818e55a2
Culling, B., & Ogle, R. (2010). Genetic Counselling Issues in Cystic Fibrosis. Paediatric Respiratory Reviews, 11(2), 75-79. doi: 10.1016/j.prrv.2010.01.001
