Gastroenterology and Hepatology, Manchester University NHS Foundation Trust.
Division of Diabetes, Endocrine and Gastroenterology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Curr Opin Pulm Med. 2021 Nov 1;27(6):593-599. doi: 10.1097/MCP.0000000000000824.
Liver disease (CFLD) as a complication of cystic fibrosis is recognized as a more severe disease phenotype in both children and adults. We review recent advances in understanding the disease mechanism and consider the implications of new strategies for the diagnosis and management of cystic fibrosis in those with evidence of clinically significant liver disease.
Evidence suggests that the prevalence of CFLD has not declined with the introduction of newborn screening. Furthermore, children with CFLD, who have been diagnosed with cystic fibrosis following newborn screening continue to have a much higher mortality rate compared with those with no liver disease. There is further data suggesting noncirrhotic obliterative portal venopathy as the predominant pathological mechanism in the majority of children and young adults receiving a liver transplantation. Little progress has been made in developing an accurate noninvasive test for early diagnosis or monitoring disease progression in CFLD. The benefit of new modulator therapies is not well understood in those with established CFLD, whereas the risk of hepatotoxicity as a complication of treatment must be carefully monitored.
Better understanding of the pathophysiology of CFLD would allow a standardized approach to diagnosis, with the potential to improve outcomes for those with CFLD.
囊性纤维化（CF）相关肝病（CFLD）是儿童和成人 CF 更为严重的疾病表型，目前已认识到这一点。我们综述了对该病发病机制的最新认识，并探讨了新的诊断和管理策略对那些存在临床显著肝脏疾病的 CF 患者的影响。
有证据表明，即使开展了新生儿筛查，CFLD 的发病率也没有下降。此外，在新生儿筛查后诊断为 CF 的 CFLD 患儿的死亡率仍明显高于无肝脏疾病的患儿。还有数据表明，非肝硬化闭塞性门静脉病是大多数接受肝移植的儿童和青年患者的主要病理机制。在开发用于早期诊断或监测 CFLD 疾病进展的准确非侵入性检测方法方面，进展甚微。新型调节剂治疗对已确诊 CFLD 患者的疗效尚不清楚，而治疗相关肝毒性的风险必须密切监测。
更好地了解 CFLD 的病理生理学将有助于制定标准化的诊断方法，从而有可能改善 CFLD 患者的预后。
