Abstract
患者青年女性。以阵发性心悸、多汗、头痛、血压升高为表现,检测儿茶酚胺及代谢产物甲氧基肾上腺素类(MNs)水平增高,基因检测为琥珀酸脱氢酶亚基B(SDHB)错义突变,影像学检查发现由冠状动脉左回旋支供血的纵隔肿瘤(40 mm×38 mm),经充分药物准备后在体外循环下行肿瘤手术切除,术后病理确诊为心脏副神经节瘤。患者术后3个月随诊复查血压、MNs正常,并对其家系进行了研究追随。.
MeSH terms
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Adrenal Gland Neoplasms*
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Heart Neoplasms*
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Humans
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Mutation
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Mutation, Missense
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Paraganglioma* / diagnostic imaging
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Paraganglioma* / genetics
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Pheochromocytoma*
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Succinate Dehydrogenase / genetics
Substances
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SDHB protein, human
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Succinate Dehydrogenase