Background: Peutz-Jeghers syndrome (PJS) is a rare disease characterized by the presence of hamartomatous polyposis throughout the gastrointestinal tract, except for the esophagus, along with characteristic mucocutaneous pigmentation. It is caused by germline pathogenic variants of the STK11 gene, which exhibit an autosomal dominant mode of inheritance. Some patients with PJS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood and sometimes have serious complications that significantly reduce their quality of life. Hamartomatous polyps in the small bowel may cause bleeding, intestinal obstruction, and intussusception. Novel diagnostic and therapeutic endoscopic procedures such as small-bowel capsule endoscopy and balloon-assisted enteroscopy have been developed in recent years. Summary: Under these circumstances, there is growing concern about the management of PJS in Japan, and there are no practice guidelines available. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labour and Welfare with specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of PJS together with four clinical questions and corresponding recommendations based on a careful review of the evidence and involved incorporating the concept of the Grading of Recommendations Assessment, Development and Evaluation system. Key Messages: Herein, we present the English version of the clinical practice guidelines of PJS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with PJS.
Digestion

中文翻译：

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儿童和成人黑斑息肉综合征的诊断和治疗临床指南

背景：黑斑息肉综合征 (PJS) 是一种罕见疾病，其特征是整个胃肠道（食道除外）存在错构瘤性息肉病，并伴有特征性皮肤粘膜色素沉着。它是由 STK11 基因的种系致病变异引起的，表现出常染色体显性遗传模式。一些 PJS 患者在儿童时期出现胃肠道病变，需要持续的医疗护理直至成年，有时会出现严重的并发症，显着降低他们的生活质量。小肠错构瘤息肉可能导致出血、肠梗阻和肠套叠。近年来开发了新的诊断和治疗内窥镜手术，例如小肠胶囊内窥镜检查和球囊辅助小肠镜检查。摘要：在这种情况下，日本的 PJS 管理越来越受到关注，并且没有可用的实践指南。针对这一情况，该指南委员会由厚生劳动省授予的罕见病和疑难病研究小组以及来自多个学术团体的专家组成。本临床指南解释了 PJS 的诊断和治疗原则，并在仔细审查证据的基础上提出了四个临床问题和相应的建议，并纳入了建议分级评估、制定和评估系统的概念。关键信息：在此，我们提出英文版 PJS 临床实践指南，以促进对 PJS 儿童、青少年和成人患者的准确诊断和适当管理的无缝实施。
消化