新生儿RYR1相关肌病1例并文献复习

doi:10.3969/j.issn.1004-583X.2025.06.011

摘要/Abstract

摘要：

目的探讨RYR1相关肌病(Ryanodine receptor type 1-related myopathies,RYR1-RM)患儿的临床特征与治疗方法,为提高RYR1-RM患儿的管理水平提供参考。方法报告1例生后即发病的RYR1-RM患儿的临床表现与遗传学信息,复习相关文献总结该病的临床特征,并概述目前已知的致病机制与治疗方法。结果患儿生后表现出水肿、肌张力低下,且呼吸困难需要长时间呼吸支持。通过高通量测序,发现患儿RYR1基因存在新发c.14398T>C杂合突变,诊断为RYR1-RM,而其父母在该位点未发现突变。共搜集到57例新生儿期发病的有详细临床资料的RYR1-RM病例,约一半患儿在产前有羊水异常及胎动减少表现,生后多以肌无力和(或)肌张力低下、面肌受累、眼肌受累、呼吸困难、喂养困难、骨科并发症为首发表现,后期多有运动里程碑延迟。结论该患儿携带一个新发现的RYR1基因突变位点,这扩展了RYR1-RM的遗传谱系。RYR1-RM在新生儿期的表现形式多样,涉及多个系统,因此,提高对该疾病的认识至关重要,以便能够早期识别并及时进行干预。基因检测对于提供遗传咨询和产前诊断非常有帮助,可以提升对潜在患者的管理质量。

关键词: 先天性肌病, RYR1基因, 肌无力, 发病机制, 治疗

Abstract:

Objective To report the clinical characteristics and therapies of ryanodine receptor type 1-related myopathies (RYR1-RM), thus enhancing the understanding of RYR1-RM. Methods Clinical characteristics and genetic variant of a patient with RYR1-RM who onset after birth were reported, and the clinical feature of the disease was summarized by reviewing relevant literatures. The pathogenesis and treatment methods were also outlined.Results A male infant, presented soon after birth with edema, hypotonia and poor respiratory effort necessitating assisted long-time ventilation. High-throughput sequencing revealed a novel heterozygous mutation in the RYR1 gene c.14398T>C. RYR1-RM. He was then diagnosed with RYR1-RM. No mutation was found at this site in his parents. A total of 57 cases of RYR1-RM with detailed clinical data were collected. About 50% of patients presented polyhydramnios and decreased fetal movements. Hypotonia, facial involvement, extraocular muscles involvement, dyspnea, feeding problem and orthopaedic complications are the major first manifestations of RYR1-RM. Delayed motor milestones can be found in the later life.Conclusion We reported a patient carried a novel mutation in the RYR1 gene, expanding the genetic spectrum of RYR1-RM. The clinical manifestation of RYR1-RM in neonatal period is variable and involves multiple systems, making it critical to increase awareness of the disease to recognize and treat earlier. Gene detection can be helpful in providing genetic counseling and prenatal diagnosis, which may enhance the quality of management of potential patients.

Key words: congenital myopathy, RYR1 gene, hypotonia, pathogenesis, therapy

中图分类号:

R685

王思晗, 李向红, 李亮亮, 锡洪敏, 杨萍, 马丽丽, 尹向云. 新生儿RYR1相关肌病1例并文献复习[J]. 临床荟萃, 2025, 40(6): 541-546.

Wang Sihan, Li Xianghong, Li Liangliang, Xi Hongmin, Yang Ping, Ma Lili, Yin Xiangyun. Neonatal ryanodine receptor type 1-related myopathies: A case report and literature review[J]. Clinical Focus, 2025, 40(6): 541-546.

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链接本文: https://lchc.magtechjournal.com/CN/10.3969/j.issn.1004-583X.2025.06.011

https://lchc.magtechjournal.com/CN/Y2025/V40/I6/541

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