罕见的Glu89Lys （p. Glu109Lys）转甲状腺蛋白淀粉样变的多系统表现：东亚女性1例报告。

IF 2.2 3区医学 Q3 CLINICAL NEUROLOGY

BMC Neurology Pub Date : 2025-10-17 DOI:10.1186/s12883-025-04392-1

Linhuan Huang, Houshi Zhou, Junling Chen, Ting Fang, Qi Lin

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引用次数: 0

摘要

背景：甲状腺转维蛋白淀粉样变性（ATTRv）表现为高度可变的多系统表型，诊断复杂。病例介绍：我们描述了一个东亚女性罕见的Glu89Lys （p. Glu109Lys）变异引起的ATTRv诊断具有挑战性的病例，这是该种族中首次报道的病例。患者表现出复杂的多系统表型，包括进行性轴突感觉运动多神经病变伴自主神经功能障碍、脑梗死、肥厚性心肌病、玻璃体混浊和不明原因的恶病质，最终在4年的诊断过程中结束。缺乏临床怀疑延迟了最终的诊断，最终通过联合组织活检证实淀粉样蛋白沉积和靶向基因测序证实Glu89Lys变异。结论：我们的研究结果强调了在疑似ATTRv病例中提高临床警惕性和早期使用多模式诊断策略的必要性。

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Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female.

Background: Transthyretin amyloidosis (ATTRv) presents with highly variable, multisystem phenotypes, complicating diagnosis.

Case presentation: We describe a diagnostically challenging case of ATTRv caused by the rare Glu89Lys (p. Glu109Lys) variant in an East Asian female-the first reported instance in this ethnic group. The patient exhibited a complex multisystem phenotype spanning progressive axonal sensorimotor polyneuropathy with autonomic dysfunction, cerebral infarction, hypertrophic cardiomyopathy, vitreous opacities, and unexplained cachexia, culminating in a 4-year diagnostic odyssey. The lack of clinical suspicion delayed definitive diagnosis, ultimately achieved through combined tissue biopsy confirming amyloid deposits and targeted genetic sequencing confirming Glu89Lys variant.

Conclusion: Our findings highlight the imperative for heightened clinical vigilance and early utilization of multimodal diagnostic strategies in suspected ATTRv cases.

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来源期刊

BMC Neurology 医学-临床神经学

CiteScore

4.20

自引率

0.00%

发文量

428

审稿时长

3-8 weeks

期刊介绍： BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.