目的:探讨转甲状腺素蛋白淀粉样变性(ATTR)的临床诊断、治疗及预后。方法:回顾性分析安徽医科大学第一附属医院2022年收治的1例ATTR患者的临床资料,并进行相关文献复习。结果:患者,男性,43岁,初期表现为间断腹泻,随后因双下肢麻木乏力行神经活检提示神经淀粉样变性,现因双下肢浮肿及尿失禁就诊,经综合检查考虑淀粉样变性多系统累及,完善心脏磁共振、99mTc-PYP核素显像及基因检测,确诊ATTR,现予以氯苯唑酸治疗,随访截至2024年12月,患者病情稳定。结论:ATTR为淀粉样变性中的罕见类型,病例少,病情进展快,临床表现缺乏特异性,虽有针对性的治疗药物,但需做到早期诊断及治疗,总体预后不佳。Abstract: To explore the clinical diagnosis, treatment, and prognosis of transthyretin amyloidosis (ATTR). Method: A retrospective analysis was conducted on the clinical data of a patient with ATTR admitted to the First Affiliated Hospital of Anhui Medical University in 2022, and relevant literature was reviewed. Result: The patient, a 43-year-old male, initially presented with intermittent diarrhea. Subsequently, nerve biopsy was performed due to numbness and weakness in both lower limbs, indicating neuroamyloidosis. The patient is now seeking medical attention due to edema and urinary incontinence in both lower limbs. After comprehensive examination, it was considered that amyloidosis involves multiple systems. After completing cardiac magnetic resonance imaging, 99mTc PYP nuclear imaging, and genetic testing, the patient was diagnosed with ATTR and is now receiving treatment with chlorpromazine. Follow-up until December 2024 shows that the patient’s condition is stable. Conclusion: ATTR is a rare type of amyloidosis with few cases, rapid disease progression, and lack of specificity in clinical manifestations. Although there are targeted therapeutic drugs, early diagnosis and treatment are necessary, and the overall prognosis is poor.
目的:本研究旨在探讨RPR水平与多发性骨髓瘤(MM)患者预后的预测价值。方法:我们回顾性分析了161例新诊断的MM患者,收集患者临床资料,根据MM的预后确定RPR的最佳截断值,将MM患者分为高RPR组和低RPR组,比较两组之间临床资料的差异性,分析RPR对MM患者预后的影响。结果:RPR最佳截断值为0.115时预测价值最高,高RPR组和低RPR组总生存期(OS)的中位数均未达到,Kaplan-Meier生存分析显示两者间差异具有统计学意义(P 0.115、肌酐 > 177 umol/L是OS的独立预后因素;RPR > 0.115是PFS的独立预后因素(P Objective: The aim of this study was to investigate the prognosis value of RPR of MM patients. Methods: We retrospectively analysed 161 newly diagnosed MM patients, collected patients’ clinical data. According to the best cut off value of RPR on the prognosis of MM, they were divided into high RPR group and low RPR group. The differences in clinical data between the two groups were compared and the influence of RPR on the prognosis of MM was analyzed. Results: The best RPR cut off value was 0.115 when the predictive value was the highest. The median overall survival (OS) was not reached in both the high and low RPR groups, and Kaplan-Meier survival analysis showed that the difference was statistically significant (P 0.115, and creatinine > 177 umol/L were independent prognostic factors for OS;RPR > 0.115 was an independent prognostic factor for PFS (P < 0.05). Conclusion: RPR is a practical and validated prognostic marker for newly diagnosed MM patients, and high RPR is an independent poor prognostic factor for OS and PFS in MM patients.
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