中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (3): 250-255.DOI: 10.19538/j.ek2025030611

• 综述 • 上一篇    下一篇

神经纤维瘤病1型合并矮小症的研究进展

  

  1. 1.中国医学科学院  阜外医院心内科，北京  100037; 2.中国医学科学院  北京协和医院内分泌科  国家卫生健康委员会内分泌重点实验室，北京  100730
  • 出版日期:2025-03-06 发布日期:2025-04-17
  • 通讯作者: 朱惠娟，电子信箱： shengxin2004@163.com

Research progress of short stature in patients with neurofibromatosis type 1

  1. *Department of Cardiology，Fuwai Hospital，Chinese Academy of Medical Science and Peking Union Medical College，Beijing  100037，China
  • Online:2025-03-06 Published:2025-04-17

摘要： 神经纤维瘤病1型（neurofibromatosis type 1，NF1） 是NF1基因突变导致的常染色体显性遗传病，发病率约为（2.0~4.8）/万。NF1患者由于神经外胚层细胞分化异常而出现多系统受累表现，包括牛奶咖啡斑、虹膜Lisch结节、多发良性神经纤维瘤、骨骼畸形、视路神经胶质瘤等。NF1与患儿生长发育密切相关，该病患者身材矮小比例常高于正常人群。文章对NF1患者身材矮小的相关研究进行综述，以期了解国内外相关领域的研究现状，引起临床医生对NF1患者生长情况的重视，为NF1患儿的生长发育的临床管理提供科学指导。

关键词: 神经纤维瘤病1型, 神经纤维蛋白1基因, 矮小

Abstract: Neurofibromatosis type 1 （NF1） is an autosomal dominant hereditary disease caused by NF1 gene mutation with an incidence of 2.0 to 4.8 per 10，000. NF1 is a multi-systemic disease characterized by abnormal differentiation of neuroectoderm with the clinical manifestations of café-au-lait macules， iris Lisch nodules， multiple neurofibromas， skeletal deformity， optic glioma and so on. NF1 is closely related to the growth and development of children， and the patients have a higher proportion of short stature than normal population. In this paper， we reviewed the recent researches of NF1 patients with short stature in order to understand the current research status in China and abroad， to raise clinicians' awareness of the growth status of NF1 patients and to provide scientific guidance for the clinical management of growth and development of children with NF1.

Key words: neurofibromatosis type 1, neurofibromin 1 gene, short stature