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

Grant number: 19/15873-6
Support Opportunities:Research Projects - Thematic Grants
Duration: August 01, 2021 - July 31, 2026
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Madson Queiroz Almeida
Grantee:Madson Queiroz Almeida
Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil
Pesquisadores principais:
Maria Candida Barisson Villares Fragoso
Associated researchers:Ana Amélia Fialho de Oliveira Hoff ; Ana Claudia Latronico Xavier ; Antonio Marcondes Lerario ; Berenice Bilharinho de Mendonça ; Luciano Ferreira Drager ; Luiz Aparecido Bortolotto ; Maria Cláudia Nogueira Zerbini ; Philippe LORY
Associated scholarship(s):23/02222-2 - Genetic investigation and genotype-phenotype correlation in the von-Hippel Lindau disease, BP.IC
22/08560-4 - Assessment of the penetrance of mutations/deletions in the SDHB and SDHD genes, BP.IC
22/09278-0 - Clinical-hormonal-radiological and genetic characterization of patients with Primary Pigmentary Nodular Adrenocortical Disease (PPNAD) associated or not with Carney Complex, BP.DD
+ associated scholarships 21/10363-0 - Whole exome sequencing for investigation of novel genetic causes of primary Aldosteronism caused by bilateral adrenal hyperplasia, BP.PD
21/13269-4 - Investigation of germline pathogenic variants in SDHB, SDHD, SDHC, TMEM127 and MAX genes in individuals with pheochromocytomas and paragangliomas, BP.TT
21/11240-9 - Whole exome sequencing for the investigation of novel genetic causes of metastatic Pheochromocytomas and Paragangliomas, BP.PD
21/10101-5 - Investigation of novel genetic alterations associated with the pathogenesis of Aldosteronomas by exome sequencing, BP.DD
21/09879-1 - Clinical and genetic investigation of the association between Primary Aldosteronism and Papillary Thyroid Cancer, BP.DD - associated scholarships


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)

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Scientific publications (5)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
FAGUNDES, GUSTAVO F. C.; ALMEIDA, MADSON Q.. erioperative Management of Pheochromocytomas and Sympathetic Paraganglioma. JOURNAL OF THE ENDOCRINE SOCIETY, v. 6, n. 2, . (19/15873-6)
FAGUNDES, GUSTAVO F. C.; FREITAS-CASTRO, FELIPE; SANTANA, LUCAS S.; AFONSO, ANA CAROLINE F.; PETENUCI, JANAINA; FUNARI, MARIANA F. A.; GUIMARAES, AUGUSTO G.; LEDESMA, FELIPE L.; PEREIRA, MARIA ADELAIDE A.; VICTOR, CAROLINA R.; et al. Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. N/A, p. 10-pg., . (19/15873-6, 21/10101-5, 21/11240-9, 21/10363-0)
MACHEI, A. A. W.; FREITAS, T. C.; FAGUNDES, G. F. C.; PETENUCI, J.; VILELA, L. A. P.; BRITO, L. P.; GOLDBAUM, T. S.; ZERBINI, M. C. N.; LEDESMA, F. L.; YANNO, F. Y.; et al. Intra-individual Variability of Serum Aldosterone and Implications for Primary Aldosteronism Screening (Nov, dgac679, 2022). JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. N/A, p. 1-pg., . (19/15873-6, 21/09879-1)
MACIEL, ANA ALICE W.; FREITAS, THAIS C.; FAGUNDES, GUSTAVO F. C.; PETENUCI, JANAINA; VILELA, LETICIA A. P.; BRITO, LUCIANA P.; GOLDBAUM, TATIANA S.; ZERBINI, MARIA CLAUDIA N.; LEDESMA, FELIPE L.; TANNO, FABIO Y.; et al. Intra-individual Variability of Serum Aldosterone and Implications for Primary Aldosteronism Screening. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. N/A, p. 11-pg., . (19/15873-6)
SANTANA, LUCAS S.; GUIMARAES, AUGUSTO G.; ALMEIDA, MADSON Q.. Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome. FRONTIERS IN ENDOCRINOLOGY, v. 13, p. 13-pg., . (19/15873-6)

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