加强遗传性息肉病综合征儿科管理的规范化。

IF 2.6
Luigi Ricciardiello, Y Nancy You
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引用次数: 0

摘要

遗传性息肉病综合征是一种具有高恶性风险的遗传性疾病。管理需要早期基因检测、结构化监测和风险知情的手术干预,但目前的实践缺乏儿科特定的标准化。我们提出了有针对性的解决方案:采用以儿科为中心的方案,开发手术时机的决策支持工具,创建多学科儿科中心,纳入社会心理服务和标准化的终身护理过渡项目,投资基因型-表型研究和化学预防试验。需要协调努力以加强循证、公平的儿科遗传性息肉病综合征护理。参见Kurowski等人的相关文章,第XX页。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Enhancing Standardization in the Pediatric Management of Hereditary Polyposis Syndromes.

Hereditary polyposis syndromes are inherited disorders with high malignancy risk. Management entails early genetic testing, structured surveillance, and risk-informed surgical intervention, yet current practice lacks pediatric-specific standardization. We propose targeted solutions: adoption of pediatric-focused protocols, development of decision-support tools for surgery timing, creation of multidisciplinary pediatric centers, inclusion of psychosocial services and standardized transition programs for lifelong care, and investment in genotype-phenotype research and chemoprevention trials. Coordinated efforts are needed to enhance evidence-based, equitable pediatric hereditary polyposis syndrome care. See related article by Kurowski et al., p. 603.

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