家族性嗜铬细胞瘤诊治进展

Progress in Diagnosis and Treatment of Familial Pheochromocytoma

家族性嗜铬细胞瘤(Familial Pheochromocytoma, FP)是常染色体显性遗传病,家族性嗜铬细胞瘤可伴随某些遗传性综合征如:家族性视网膜及中枢性神经系统血管瘤病(Von-Hippel-Lindau disease,VHL病),多发内分泌肿瘤2型(MEN2),家族性副神经节瘤1~5型,神经纤维瘤病1型等,本文详细阐述了上述相关疾病与家族性嗜铬细胞瘤的相关性,对家族性嗜铬细胞瘤最新研究进展进行综述。

Familial pheochromocytoma (FP) is an autosomal dominant disorder. Familial pheochromocytoma can be accompanied by certain genetic syndromes such as familial retinal and central nervous sys-tem angiomatosis (VHL disease), multiple endocrine neoplasia type 2 (MEN2), familial paragangli-oma type 1~5, neurofibromatosis type 1, and so on, This article describes in detail the correlation between the above related diseases and familial pheochromocytoma, and reviews the latest re-search progress in familial pheochromocytoma.