遗传代谢性肝病是一类常见的儿童肝病,单一病种患病率虽低,但总体发病率较高,其诊断依赖于临床症状和体征、实验室检查、影像学、肝穿刺活检及基因检测等多项临床资料.肝穿刺活检为一种侵入性有创操作,在不同遗传代谢性肝病中的诊断价值并不一致,也并非所有遗传代谢性肝病的诊断都需肝穿刺活检,且不一定有特征性病理表现,故临床医生应严格把握其检查指征,使肝穿刺活检临床价值发挥至最大化.
Inherited metabolic liver disease is a kind of common liver disease in children.Although the prevalence rate of single disease is low,the overall incidence is high.The diagnosis relies on multiple clinical data,including clinical symptoms and signs,laboratory examination,imaging,liver biopsy and gene detection.Liver biopsy is an invasive procedure,and its diagnostic value is not consistent in different genetic metabolic liver diseases.Not all liver diseases need liver biopsy,and genetic metabolic liver diseases do not necessarily have their characteristic pathological manifestations.Therefore,clinicians should master the indications strictly to maximize the clinical value of liver biopsy.
范艳蕾;李中跃
重庆医科大学附属儿童医院消化科国家儿童健康与疾病临床医学研究中心儿童发育疾病研究教育部重点实验室儿童发育重大疾病国家国际科技合作基地儿科学重庆市重点实验室,重庆 400014重庆医科大学附属儿童医院消化科国家儿童健康与疾病临床医学研究中心儿童发育疾病研究教育部重点实验室儿童发育重大疾病国家国际科技合作基地儿科学重庆市重点实验室,重庆 400014||浙江大学医学院附属第四医院儿科,浙江义乌 322000
临床医学
肝穿刺活检;儿童;遗传代谢性肝病
liver biopsy;child;inherited metabolic liver disease
《中国实用儿科杂志》 2024 (007)
544-548,554 / 6
10.19538/j.ek2024070613
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