中国儿科危重罕见病诊治现状与展望。

IF 1.9 4区 医学 Q2 PEDIATRICS
Pediatric Investigation Pub Date : 2024-02-21 eCollection Date: 2024-03-01 DOI:10.1002/ped4.12419
Yingchao Liu, Suyun Qian
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引用次数: 0

摘要

儿童危重罕见病(RDs)发病急、危害大、死亡率高,给家庭和社会带来沉重负担。多发性畸形、神经肌肉疾病、代谢性疾病和心脏病是我国儿童最常见的罕见病类型,常表现为多器官功能障碍。目前,儿童危重症 RD 的诊断和治疗面临着诊断时间长、误诊率高、治疗手段有限、疾病负担重等挑战。然而,随着我国基因检测技术的进步、多学科诊疗平台的建立以及相关 RD 政策的实施,危重 RD 患儿将获得更好的医疗服务、预后得到改善,并重新融入社会生活。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China.

The onset of critical rare diseases (RDs) in children is rapid and dangerous, accompanied by a high mortality rate, which brings a heavy burden to both families and society. Multiple malformations, neuromuscular diseases, metabolic diseases, and heart diseases are the most common types of RDs in children of China, often manifesting with multiple organ dysfunction. At present, the diagnosis and treatment of critical RDs in children face challenges such as prolonged diagnosis time, a high misdiagnosis rate, limited treatment modalities, and a significant disease burden. However, with the progress in genetic testing technology, the establishment of multidisciplinary diagnosis and treatment platforms, and the implementation of relevant RD policies in China, children with critical RDs will received enhanced medical services, experience improved prognoses, and reintegrate into social life.

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来源期刊
Pediatric Investigation
Pediatric Investigation Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.30
自引率
0.00%
发文量
176
审稿时长
12 weeks
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