Goyal Nidhi P, Xanthakos Stavra, Schwimmer Jeffrey B
Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego School of Medicine, La Jolla, California, USA.
Department of Gastroenterology, Rady Children's Hospital, San Diego, California, USA.
Gut. 2025 Mar 6;74(4):669-677. doi: 10.1136/gutjnl-2023-331090.
Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease, is the most common cause of chronic liver disease in children. MASLD encompasses a spectrum of liver disease and can be severe, with 10% of affected children presenting with advanced fibrosis. While biopsy remains the most accurate method for diagnosing and staging the disease, MRI proton density fat fraction and magnetic resonance elastography are the most reliable non-invasive measures for assessing steatosis and fibrosis, respectively. MASLD is associated with multiple comorbidities including type 2 diabetes, hypertension, dyslipidaemia, decreased bone mineral density, obstructive sleep apnoea, anxiety and depression. Currently, there are no pharmacological treatments available for children, highlighting the urgent need for paediatric clinical trials. A diet low in free sugars is promising for reducing steatosis and decreasing alanine aminotransferase, a surrogate marker for hepatic inflammation. Emerging data indicate that steatosis can be present in children under 6 years of age, which was previously considered rare. The intricate interplay of genetics may inform future therapeutics and prognostication, with the gene showing the most evidence for association with the risk and severity of steatotic liver disease and steatohepatitis. MASLD is a complex disease affecting one in ten children and is associated with increased early mortality risk. More dedicated studies are needed in children to advance our understanding of this disease and find effective treatments.
代谢功能障碍相关脂肪性肝病(MASLD),以前称为非酒精性脂肪性肝病,是儿童慢性肝病最常见的病因。MASLD涵盖一系列肝脏疾病,且可能较为严重,10%的患病儿童会出现晚期纤维化。虽然活检仍是诊断该疾病及进行分期的最准确方法,但MRI质子密度脂肪分数和磁共振弹性成像分别是评估脂肪变性和纤维化最可靠的非侵入性手段。MASLD与多种合并症相关,包括2型糖尿病、高血压、血脂异常、骨密度降低、阻塞性睡眠呼吸暂停、焦虑和抑郁。目前,尚无针对儿童的药物治疗方法,这凸显了开展儿科临床试验的迫切需求。低糖饮食有望减轻脂肪变性并降低丙氨酸氨基转移酶水平,丙氨酸氨基转移酶是肝脏炎症的替代标志物。新出现的数据表明,脂肪变性可能出现在6岁以下儿童中,而这在以前被认为很罕见。遗传学的复杂相互作用可能为未来的治疗和预后提供信息,其中[具体基因]显示出与脂肪性肝病和脂肪性肝炎的风险及严重程度关联的最有力证据。MASLD是一种复杂疾病,每十名儿童中就有一名受其影响,且与早期死亡风险增加相关。需要在儿童中开展更多专门研究,以增进我们对这种疾病的了解并找到有效的治疗方法。