一名 CYP3A4 rs2740574 TT 基因型亚裔青少年因长春新碱引起的严重双下肢外周神经病理性乏力症

Dongdong Zhang, Jie Bai
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引用次数: 0

摘要

背景:长春新碱(VCR)诱发的周围神经病变(VIPN)是癌症治疗过程中常见的不良反应,典型特征是麻木和麻痹。本研究旨在报告一例罕见的非典型基因型 VIPN 病例,表现为 3 级下肢无力:一名被诊断为肺泡横纹肌肉瘤 8 个月的 19 岁男子,在一线治疗失败后转入我院接受进一步治疗。在接受了四个疗程的二线化疗后,他的双下肢长期严重无力,无法行走。根据患者的体格检查、影像学检查、肌电图结果和治疗史,确诊为 VIPN。此外,药物基因分析表明,患者携带 CYP3A4 rs2740574 TT 基因型:我们首次报道了一名主要临床表现为双下肢严重无力并伴有 CYP3A4 rs2740574 TT 表型的 VIPN 患者。该病例可能为 VIPN 的表型特征提供了新的信息,并有助于更好地理解疾病的发病机制和诱因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Severe Vincristine-Induced Peripheral Neuropathic Weakness in Both Lower Limbs in an Asian Adolescent with CYP3A4 rs2740574 TT Genotype
Background: Vincristine (VCR)-induced peripheral neuropathy (VIPN) is a common adverse reaction during cancer treatment, typically characterized by numbness and paresthesias. This study aimed to report a rare case of VIPN with an atypical genotype, manifesting as grade 3 weakness of the lower limbs.
Case Presentation: A 19-year-old man, diagnosed with alveolar rhabdomyosarcoma for 8 months, was transferred to our hospital for further treatment after the failure of first-line treatment. He developed severe long-standing weakness in both lower limbs and could not walk after four sessions of second-line chemotherapy. The diagnosis of VIPN was confirmed based on the patient’s physical examination, imaging studies, electromyogram results, and treatment history. Furthermore, the pharmacogenetic analysis indicated that the patient harbored CYP3A4 rs2740574 TT genotypes.
Conclusion: We have reported for the first time a VIPN patient whose main clinical manifestation is severe weakness in both lower limbs, accompanied by the CYP3A4 rs2740574 TT phenotype. This case may provide new information on the phenotypic features of VIPN, and may help to better understand the disease pathogenesis and contributing factors.

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