Anton-Păduraru Dana-Teodora, Azoicăi Alice Nicoleta, Trofin Felicia, Murgu Alina Mariela, Mîndru Dana Elena, Bocec Ana Simona, Halițchi Codruța Olimpiada Iliescu, Zota Gabriela Rusu, Păduraru Diana, Nastase Eduard Vasile
Department of Mother and Child Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iaṣi, Romania.
"Sf. Maria" Children Emergency Hospital, 700309 Iasi, Romania.
Diagnostics (Basel). 2024 Mar 3;14(5):538. doi: 10.3390/diagnostics14050538.
Cystic fibrosis (CF) is a multifaceted disorder predominantly investigated for its pulmonary manifestations, yet patients with CF also exhibit a spectrum of extrapulmonary manifestations, notably those involving the hepatobiliary system. The latter constitutes the third leading cause of morbidity and mortality in individuals with CF. Cystic fibrosis-related liver disease (CFLD), with an escalating prevalence, manifests diverse clinical presentations ranging from hepatomegaly to cirrhosis and hepatopulmonary syndrome. Consequently, early detection and appropriate management are imperative for sustaining the health and influencing the quality of life of CF patients afflicted with CFLD. This review aims to consolidate existing knowledge by providing a comprehensive overview of hepatobiliary manifestations associated with CF. It delineates the clinical hepatobiliary manifestations, diagnostic methodologies, incorporating minimally invasive markers, and therapeutic approaches, encompassing the impact of novel CFTR modulators on CFLD. Given the exigency of early diagnosis and the intricate management of CFLD, a multidisciplinary team approach is essential to optimize care and enhance the quality of life for this subset of patients. In conclusion, recognizing CF as more than solely a pulmonary ailment, the authors underscore the imperative for further clinical investigations to establish a more robust evidence base for CFLD management within the continuum of this chronic disease.
囊性纤维化(CF)是一种多方面的疾病,主要因其肺部表现而受到研究,但CF患者也表现出一系列肺外表现,尤其是那些涉及肝胆系统的表现。后者是CF患者发病和死亡的第三大主要原因。与囊性纤维化相关的肝病(CFLD)患病率不断上升,表现出从肝肿大到肝硬化和肝肺综合征等多种临床表现。因此,早期检测和适当管理对于维持患有CFLD的CF患者的健康并影响其生活质量至关重要。本综述旨在通过全面概述与CF相关的肝胆表现来巩固现有知识。它描述了临床肝胆表现、诊断方法(包括微创标志物)以及治疗方法,包括新型CFTR调节剂对CFLD的影响。鉴于早期诊断的紧迫性和CFLD的复杂管理,多学科团队方法对于优化该亚组患者的护理和提高生活质量至关重要。总之,作者认识到CF不仅仅是一种肺部疾病,强调有必要进行进一步的临床研究,以便在这种慢性病的连续过程中为CFLD管理建立更坚实的证据基础。