Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.
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DOI：
10.1186/s13023-022-02302-z
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发表时间：
2022-06-13
影响因子：
3.7
通讯作者：
Zou Chao-Chun
中科院分区：
文献类型：
--
作者：
Dai Yang-Li;Luo Fei-Hong;Zhang Hui-Wen;Ma Ming-Sheng;Luo Xiao-Ping;Liu Li;Wang Yi;Zhou Qing;Jiang Yong-Hui;Zou Chao-Chun
Prader-Willi综合征（PWS）是一种复杂的、多系统的神经行为疾病，其发病原因是位于染色体15q11.2-q13.1上的父系遗传印记基因表达缺失。PWS的临床表现随年龄而变化。其特征是在婴儿早期出现严重肌张力减退伴吸吮不良和喂养困难，随后在婴儿晚期或儿童早期暴饮暴食，除非饮食受到外部控制，否则会逐渐发展为病态肥胖。与西方PWS患者相比，中国患者的缺失型比例较高。近年来，我国虽然建立了包括中华儿科学会罕见病分支PWS协作组、浙江省PWS专家组等在内的罕见病网络，但仍存在误诊、漏诊和干预不当等问题。因此，迫切需要一种综合的多学科方法，以促进早期诊断和优化管理，以提高生活质量，预防并发症，延长预期寿命。我们的目的是评估目前的文献和证据的诊断和治疗PWS，以提供基于证据的指南，特别是从中国。
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the diet is externally controlled. Compared to Western PWS patients, Chinese patients have a higher ratio of deletion type. Although some rare disease networks, including PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS, were established recently, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted in China. Therefore, there is an urgent need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy. Our purpose is to evaluate the current literature and evidences on diagnosis and management of PWS in order to provide evidence-based guidelines for this disease, specially from China.
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作者：
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DOI：
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发表时间：
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