1型神经纤维瘤病患者遗传性嗜铬细胞瘤筛查1例报告。

TouchREVIEWS in endocrinology Pub Date : 2021-04-01 Epub Date: 2021-04-28 DOI:10.17925/EE.2021.17.1.79
Inês Isabel Ferreira Barros, Fernando Manso, Ana Isabel Caldas E Silva, Maria Ramires Silva Lopes Pereira
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引用次数: 0

摘要

嗜铬细胞瘤(PHEO)是一种罕见的肿瘤,起源于肾上腺髓质嗜铬细胞,分泌儿茶酚胺。这些激素也由副神经节瘤分泌,它来源于交感椎旁神经节的肾上腺外细胞。至少三分之一的pheo是家族性的。1型神经纤维瘤病(NF1),或von Recklinghausen病,根据临床标准诊断,如果存在高血压,建议进行PHEO研究。NF1中PHEO的发生率为0.1-5.7%,这解释了这些患者中20-50%的高血压。这种疾病的治疗和术前准备的最新进展使我们能够降低其高心血管死亡率。我们报告一例31岁女性NF1患者,有5个月的非特异性症状史和术中高血压危象发作。检查发现左侧PHEO,手术治疗。我们的病例说明了遗传性PHEO的高患病率以及它的表现如何被忽视。这加强了NF1患者PHEO筛查的重要性。
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Screening for Hereditary Pheochromocytoma in a Patient with Neurofibromatosis Type 1: A Case Report.

Pheochromocytoma (PHEO) is a rare tumour that arises from adreno-medullary chromaffin cells and secretes catecholamines. These hormones are also secreted by paragangliomas, which derive from extra-adrenal cells of the sympathetic paravertebral ganglia. At least one-third of PHEOs are familial. Neurofibromatosis type 1 (NF1), or von Recklinghausen's disease, is diagnosed upon clinical criteria, and the study of PHEO is advised if hypertension is present. The incidence of PHEO in NF1 is 0.1-5.7% and explains hypertension in 20-50% of these patients. Recent advances in the treatment of this condition and preoperative preparation allow us to reduce its high cardiovascular morbimortality. Here we present the case of a 31-year-old female with known NF1 who presented with 5 months' history of non-specific symptoms and an episode of intraoperative hypertensive crisis. The workup detected a left sided PHEO, which was treated surgically. Our case illustrates the high prevalence of hereditary PHEO and how its presentation can go unnoticed. It reinforces the significance of screening for PHEO in patients with NF1.

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