Investigation of new genetic, clinical and pathological aspects of endocrine arterial hypertension

Abstract

Arterial hypertension (AH) is an important cardiovascular risk factor, with an estimated prevalence of 10 to 40% of adults in developed countries. AH is primary or essential in the majority of the cases, but the prevalence of secondary AH increases to around 30% in young adults. Among patients with resistant AH, screening for primary aldosteronism (PA) and for catecholamine-secreting tumors (pheochromocytomas and paragangliomas - PPGLs) is recommended. PA represents the most frequent cause of endocrine AH, with a prevalence of 20% among individuals with resistant AH. In this thematic proposal, we will investigate new genetic, clinical and anatomopathological aspects of endocrine AH. The specific aims of this project are: 1) To investigate new genetic causes of PA using massive parallel sequencing (MPS); 2) To evaluate the efficacy of the oral furosemide test as a new diagnostic tool for PA; 3) To define new anatomopathological criteria to characterize adrenal lesions associated with PA; 4) To investigate clinical and genetic aspects of the association between PA and thyroid cancer (a new endocrine tumor syndrome?); 5) To investigate new genetic etiologies of PPGLs using MPS; 6) To conduct a clinical randomized study to evaluate predictive features of cardiovascular risk in patients with adrenal incidentaloma and autonomous cortisol secretion. To conduct these projects, we have a multidisciplinary team with expertise in endocrine AH from the fields of endocrinology, cardiology, nephrology, pathology and bioinformatics. As expected outcomes, we will increase the knowledge about molecular pathogenesis, clinical and anomopathological diagnosis of endocrine AH, expanding the available tools for the diagnosis and management of patients in clinical practice. In addition, our findings will build a solid platform for genetic, clinical and anatomopathological data about endocrine AH with relevant impact on clinical and academic levels. (AU)