| 摘要: |
| 尼曼匹克病(Niemann-Pick disease,NPD)是一组鞘磷脂沉积导致的溶酶体脂质贮积病,一种罕见的常染色体隐性遗传病。该病1914 年由德国儿科医生Albert Niemann 首先报道,在西班牙裔波多黎各人、犹太人和加拿大新斯舍省法裔中多见,据已有文献报道,亚洲人中发病率较低 ,在中国少见,约30%的患者有家族史 。NPD 主要分为A、B、C 三型,其中A、B 型是由于编码酸性鞘磷脂酶(ASM)的鞘磷脂磷酸二酯酶-1 ( sphingomyelin phosphodiesterase 1,SMPD1)基因发生突变所致[4] ,C 型是由于(MIN257220)和/或(MIN257220)基因的突变所导致[5] 。NPD 的临床表型具有很高的异质性,易出现漏诊、误诊,本文通过对NPD 的分型、临床表现、诊断、治疗及预后作一综述,从而提高儿科临床医师对该疾病的认识和诊断水平 |
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| DOI：10.13407/j.cnki.jpp.1672-108X.2022.07.015 |
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| Progress of Niemann-Pick Disease |
| Diao Qian, Huang Yanfeng |
| (Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China) |
| Abstract: |
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