Huang Jin-Yue, Zhang Bi-Li, Liu Wei
Institute of Pediatrics, Children's Hospital of Tianjin University (Tianjin Children's Hospital), Tianjin 300134, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Mar 15;25(3):308-314. doi: 10.7499/j.issn.1008-8830.2211010.
Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease and improve the quality of life of children. Many rare diseases can be diagnosed with the help of various experimental techniques, but the diagnosis of rare diseases is still not widely understood. This article summarizes the laboratory diagnostic techniques currently used for rare genetic diseases in children, so as to provide clues for the diagnosis and treatment of such diseases and help to enhance the theoretical understanding and precise medical treatment of rare genetic diseases in children.
罕见病是指一组发病率低、发病机制复杂、病情严重且进展迅速的单一疾病。大多数罕见病具有遗传背景，可能在儿童期发病。关注儿童罕见遗传病并进行早期诊断和治疗，可有效延缓病程，提高儿童生活质量。许多罕见病借助各种实验技术能够得到诊断，但罕见病的诊断仍未得到广泛了解。本文总结了目前用于儿童罕见遗传病的实验室诊断技术，以便为此类疾病的诊断和治疗提供线索，并有助于增强对儿童罕见遗传病的理论认识和精准医疗。
