Vermalle Marie, Tabarin Antoine, Castinetti Frederic
Aix-Marseille université, Institut national de la santé et de la recherche médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France; Assistance publique-Hôpitaux de Marseille (AP-HM), département d'endocrinologie, hôpital de la Conception, centre de référence des maladies rares de l'hypophyse HYPO, 13005, Marseille, France.
Service d'endocrinologie, diabète et nutrition, USN Haut-Leveque, 33000 CHU Bordeaux, université Bordeaux, France.
Ann Endocrinol (Paris). 2018 Sep;79 Suppl 1:S10-S21. doi: 10.1016/S0003-4266(18)31234-4.
The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the modalities of diagnosis and management of patients presenting with hereditary pheochromocytoma and paraganglioma are now well defined, screening and follow-up strategies for asymptomatic mutation carriers remain a matter of debate. This raises major questions as these asymptomatic patients will require a lifelong follow-up. The aim of this review is an attempt to give insights on the optimal screening and follow-up strategies of asymptomatic carriers of SDHx, MAX and TMEM127 mutations, with additional thoughts on the forensic and psychological aspects of the management of such patients with rare diseases.
近年来，由于发现了新的易感基因，尤其是SDHx、MAX和TMEM127，嗜铬细胞瘤和副神经节瘤的管理发生了深刻的演变。虽然目前遗传性嗜铬细胞瘤和副神经节瘤患者的诊断和管理方式已经明确，但无症状突变携带者的筛查和随访策略仍存在争议。这引发了重大问题，因为这些无症状患者需要终身随访。本综述的目的是试图深入探讨SDHx、MAX和TMEM127突变无症状携带者的最佳筛查和随访策略，并对这类罕见病患者管理中的法医和心理方面提出更多思考。
