van de Peppel Ivo P, Bertolini Anna, Jonker Johan W, Bodewes Frank A J A, Verkade Henkjan J
aPediatric Gastroenterology and Hepatology bDepartment of Pediatrics, Section of Molecular Metabolism and Nutrition, Laboratory of Pediatrics, University Medical Center Groningen, Groningen, The Netherlands.
Curr Opin Pulm Med. 2017 Nov;23(6):562-569. doi: 10.1097/MCP.0000000000000428.
To provide an insight and overview of the challenges in the diagnosis, follow-up and treatment of cystic fibrosis-related liver disease (CFLD).
The variable pathophysiology of CFLD complicates its diagnosis and treatment. A 'gold standard' for CFLD diagnosis is lacking. Over the past years, new techniques to diagnose features of CFLD, such as transient elastography, have been investigated. Although most of these tests confirm cystic fibrosis-related liver involvement (CFLI), they are, however, not suitable to distinguish various phenotypical presentations or predict progression to clinically relevant cirrhosis or portal hypertension. A combined initiative from the European and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition has been started, aimed to obtain consensus on CFLD criteria and definitions. Currently, only ursodeoxycholic acid is used in CFLD treatment, although it has not been convincingly demonstrated to change the natural course of the disease. Drugs that directly target cystic fibrosis transmembrane conductance regulator protein dysfunction show promising results; however, more long-term follow-up and validation studies are needed.
CFLD is an umbrella term referring to a wide variety of liver manifestations with variable clinical needs and consequences. CFLD with portal hypertension is the most severe form of CFLD due to its significant implications on morbidity and mortality. The clinical relevance of other CFLI is uncertain. Consensus on CFLD definitions is essential to validate new diagnostic tools and therapeutic outcome measures.
深入了解并概述囊性纤维化相关肝病（CFLD）在诊断、随访及治疗方面的挑战。
CFLD的病理生理学变化多样，使其诊断和治疗复杂化。目前缺乏CFLD诊断的“金标准”。在过去几年中，已对一些诊断CFLD特征的新技术进行了研究，如瞬时弹性成像。虽然这些检查大多证实了囊性纤维化相关肝脏受累（CFLI），但它们并不适合区分各种表型表现，也无法预测是否会进展为临床相关的肝硬化或门静脉高压。欧洲和北美儿科胃肠病学、肝病学和营养学会已联合发起一项倡议，旨在就CFLD的标准和定义达成共识。目前，CFLD治疗中仅使用熊去氧胆酸，尽管尚未有令人信服的证据表明其能改变疾病的自然病程。直接针对囊性纤维化跨膜传导调节蛋白功能障碍的药物显示出有前景的结果；然而，还需要更多的长期随访和验证研究。
CFLD是一个统称，涵盖了具有不同临床需求和后果的多种肝脏表现。伴有门静脉高压的CFLD是CFLD最严重的形式，因其对发病率和死亡率有重大影响。其他CFLI的临床相关性尚不确定。就CFLD定义达成共识对于验证新的诊断工具和治疗效果评估指标至关重要。
