在99mTc-DPD骨显像上偶然发现有神经系统症状和不明原因骨骼疼痛的患者转甲状腺素心肌淀粉样变:1例报告。

IF 0.9 4区 医学 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Hellenic journal of nuclear medicine Pub Date : 2025-01-01 Epub Date: 2025-04-07 DOI:10.1967/s002449912788
Milos Stevic, Filip Velickovic, Tamara Andjelkovic, Nina Topic
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引用次数: 0

摘要

遗传性甲状腺转蛋白淀粉样变性(hATTR)是一种罕见的疾病。这正是为什么在限制性心肌病患者中,有或没有神经或其他症状,会出现未确诊的甲状腺素转淀粉样变的原因。在有心脏或神经症状的患者中,也有使用二磷酸盐全身显像偶然检测到hATTR的病例。在本文中,我们报告了一名65岁的有神经系统和心脏症状的患者意外检测到hATTR,该患者因不明原因的骨骼疼痛而被推荐使用骨骼放射药物进行骨骼扫描。观察到心肌对放射性药物的摄取明显增加,相应的Perugini评分为3,半量化的心脏/对侧肺固定比(H/CL)在放射药物应用后的第2小时为2.6。心脏超声检查支持同心心肌病。由于对hATTR的高度怀疑,进行了基因检测,结果显示甲状腺转甲状腺素基因发生了病理突变。遗传性hTTR可能是一种比文献报道的更常见的疾病。利用hATTR检测算法,提高人们对本病可能存在的认识,利用骨放射药物的显像及时诊断和适当治疗可以帮助患者及其近亲属。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incidental finding of transthyretin myocardial amyloidosis in a patient with neurological symptoms and unexplained skeletal pain on bone scintigraphy using 99mTc-DPD: A case report.

Hereditary transthyretin amyloidosis (hATTR) is considered a rare disease. This is precisely why there are cases of undiagnosed transthyretin amyloidosis, in patients present with restrictive cardiomyopathy, with or without neurological or other symptoms. There are cases of incidental detection of hATTR in patients with cardiac or neurological symptoms using whole-body scintigraphy with diphosphonates. In this paper, we present the accidental detection of hATTR in a 65-year-old patient with neurological and cardiac symptoms, who was referred for skeletal scintigraphy with skeletally avid radiopharmaceuticals due to skeletal pain of unknown origin. Significantly increased uptake of radiopharmaceuticals in the myocardium was observed, corresponding to a Perugini score of 3, with semi-quantification of the heart/contralateral lung fixation ratio (H/CL) of 2.6 in the second hour after radiopharmaceutical application. Ultrasound of the heart was in favor of concentric cardiomyopathy. Due to the high suspicion of hATTR, a genetic test was performed, which showed a pathological mutation of the gene for transthyretin. Hereditary hTTR is probably a more common disease than reported in the literature. Using hATTR detection algorithms and raising awareness of the possible existence of this disease, timely diagnosis using scintigraphy with bone avid radiopharmaceuticals and appropriate therapy can help patients and their close relatives.

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来源期刊
CiteScore
1.40
自引率
6.70%
发文量
34
审稿时长
>12 weeks
期刊介绍: The Hellenic Journal of Nuclear Medicine published by the Hellenic Society of Nuclear Medicine in Thessaloniki, aims to contribute to research, to education and cover the scientific and professional interests of physicians, in the field of nuclear medicine and in medicine in general. The journal may publish papers of nuclear medicine and also papers that refer to related subjects as dosimetry, computer science, targeting of gene expression, radioimmunoassay, radiation protection, biology, cell trafficking, related historical brief reviews and other related subjects. Original papers are preferred. The journal may after special agreement publish supplements covering important subjects, dully reviewed and subscripted separately.
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