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科斯特洛综合征的多学科管理:当前观点

Multidisciplinary Management of Costello Syndrome: Current Perspectives.

作者信息

Leoni Chiara, Viscogliosi Germana, Tartaglia Marco, Aoki Yoko, Zampino Giuseppe

机构信息

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

出版信息

J Multidiscip Healthc. 2022 Jun 2;15:1277-1296. doi: 10.2147/JMDH.S291757. eCollection 2022.

Abstract

Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in . It belongs among the RASopathies, a group of syndromes characterized by alterations in components of the RAS/MAPK signaling pathway and sharing overlapping phenotypes. Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities, and cancer predisposition. Due to the several comorbidities having a strong impact on the quality of life, a multidisciplinary team is essential in the management of such a condition from infancy to adult age, to promptly address any detected issue and to develop appropriate personalized follow-up protocols and treatment strategies. With the present paper we aim to highlight the core and ancillary medical disciplines involved in managing the health challenges characterizing CS from pediatric to adult age, according to literature and to our large clinical experience.

摘要

科斯特洛综合征(CS)是一种由[基因名称]种系突变引起的罕见神经发育障碍。它属于RAS病,这是一组以RAS/MAPK信号通路成分改变为特征且具有重叠表型的综合征。其典型特征包括独特的面部外观、生长发育迟缓、智力障碍、外胚层、心脏和肌肉骨骼异常以及癌症易感性。由于多种合并症对生活质量有很大影响,多学科团队对于从婴儿期到成年期管理这种疾病至关重要,以便及时处理任何检测到的问题并制定适当的个性化随访方案和治疗策略。在本文中,我们旨在根据文献和我们丰富的临床经验,强调从儿童期到成年期管理CS所面临的健康挑战时涉及的核心和辅助医学学科。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd5a/9169840/978841479a35/JMDH-15-1277-g0001.jpg

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