Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps, which leads to an increased susceptibility to tumors. The clinical incidence is rare, and the only currently identified pathogenic gene is the serine/threonine kinase 11/liver kinase B1 (STK11/LKB1) located on the short arm of chromosome 19 (19p13.3). This condition can lead to various complications, such as gastrointestinal bleeding, intussusception, intestinal obstruction, and malignancy. In childhood, the greatest risk is associated with intussusception, which increases the risk of surgical intervention and significantly impacts the growth, development, and quality of life of the children. This article provides an overview of the current research status regarding the clinical characteristics, etiology, pathogenesis, diagnosis, and treatment of PJS in children.
Peutz-Jeghers综合征（Peutz-Jeghers syndrome, PJS）是一种以皮肤黏膜色素沉着、胃肠道多发错构瘤性息肉为主要特征的肿瘤易感性常染色体显性遗传病，临床发病罕见，19号染色体短臂（19p13.3）上的丝氨酸/苏氨酸激酶11/肝激酶B1（serine/threonine kinase 11/liver kinase B1, STK11/LKB1）是目前唯一确定的致病基因。该病可导致多种并发症，如消化道出血、肠套叠、肠梗阻、癌变等。儿童期以合并肠套叠危害最大，而反复肠套叠易增加外科手术风险，从而对患儿生长发育及生活质量产生巨大影响。该文对儿童PJS的临床特征、病因、发病机制、诊断及治疗等方面的研究现状作一概述。.
Keywords: Child; Gastrointestinal polyp; Peutz-Jeghers syndrome.