Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.

IF 3 3区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Digestion Pub Date : 2023-01-01 Epub Date: 2023-04-13 DOI:10.1159/000529799
Hironori Yamamoto, Hirotsugu Sakamoto, Hideki Kumagai, Takashi Abe, Shingo Ishiguro, Keiichi Uchida, Yuko Kawasaki, Yoshihisa Saida, Yasushi Sano, Yoji Takeuchi, Masahiro Tajika, Takeshi Nakajima, Kouji Banno, Yoko Funasaka, Shinichiro Hori, Tatsuro Yamaguchi, Teruhiko Yoshida, Hideki Ishikawa, Takeo Iwama, Yasushi Okazaki, Yutaka Saito, Nariaki Matsuura, Michihiro Mutoh, Naohiro Tomita, Takashi Akiyama, Toshiki Yamamoto, Hideyuki Ishida, Yoshiko Nakayama
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引用次数: 3

Abstract

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.

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儿童和成人Peutz-Jeghers综合征诊断和治疗的临床指南。
背景:Peutz-Jeghers综合征(PJS)是一种罕见的疾病,其特征是除食道外,整个胃肠道都存在错构瘤性息肉病,并伴有典型的粘膜皮肤色素沉着。它是由STK11基因的种系致病性变体引起的,这种变体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,直到成年,有时还会出现严重并发症,严重降低他们的生活质量。小肠错构瘤性息肉可能导致出血、肠梗阻和肠套叠。近年来,人们开发了新型的诊断和治疗内镜程序,如小肠胶囊内镜和球囊辅助肠镜。摘要:在这种情况下,日本对PJS的管理越来越担忧,而且没有可用的实践指南。为了解决这一问题,卫生、劳动和福利部授予的罕见病和难治性疾病研究小组与来自多个学术团体的专家组成了指导委员会。本临床指南解释了PJS的诊断和管理原则,以及四个临床问题和相应的建议,这些问题和建议基于对证据的仔细审查,并涉及纳入建议分级评估、发展和评估系统的概念。关键信息:在此,我们提供PJS临床实践指南的英文版,以促进儿科、青少年和成人PJS患者的准确诊断和适当管理的无缝实施。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Digestion
Digestion 医学-胃肠肝病学
CiteScore
7.90
自引率
0.00%
发文量
39
审稿时长
6-12 weeks
期刊介绍: ''Digestion'' concentrates on clinical research reports: in addition to editorials and reviews, the journal features sections on Stomach/Esophagus, Bowel, Neuro-Gastroenterology, Liver/Bile, Pancreas, Metabolism/Nutrition and Gastrointestinal Oncology. Papers cover physiology in humans, metabolic studies and clinical work on the etiology, diagnosis, and therapy of human diseases. It is thus especially cut out for gastroenterologists employed in hospitals and outpatient units. Moreover, the journal''s coverage of studies on the metabolism and effects of therapeutic drugs carries considerable value for clinicians and investigators beyond the immediate field of gastroenterology.
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