| Literature DB >> 30213301 |
Marie Vermalle1, Antoine Tabarin2, Frederic Castinetti3.
Abstract
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.Entities:
Keywords: Asymptomatic mutation carriers; MAX; Porteurs asymptomatiques; SDHx; TMEM127
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Year: 2018 PMID: 30213301 DOI: 10.1016/S0003-4266(18)31234-4
Source DB: PubMed Journal: Ann Endocrinol (Paris) ISSN: 0003-4266 Impact factor: 2.478