TY  - JOUR
AU  - Jamel, Aline Sampaio 
AU  - De Paula, Erich Vinicius 
AU  - Hayakawa, Gabriela Góes Yamaguti Hayakawa
AU  - Fraiji, Nelson Abrahim 
AU  - Moura Neto, José Pereira de 
PY  - 2024/01/19
Y2  - 2024/08/24
TI  - Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia from two different regions of Brazil
JF  - Peer Review
JA  - PRW
VL  - 6
IS  - 2
SE  - Articles
DO  - 
UR  - https://peerw.org/index.php/journals/article/view/1736
SP  - 58-76
AB  - <p>Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized hemorrhagic diseases described in consensus clinical diagnostic criteria (Curaçao). We describe the clinical and molecular characteristics of HHT patients from two different geographic regions of Brazil (São Paulo and Manaus). Demographic and clinical data were obtained from the electronic medical records and molecular analysis was performed by Sanger sequencing. We present here the first clinical characterization concomitantly with a molecular study of patients with THH in Brazil. These clinical characterizations may reveal differences in the molecular pathophysiology of HHT in Brazil - that our phenotypic database opens the way to be studied, or indicate limitations in the care of these patients, who need a multidisciplinary attention to prevent and treat the complications of this condition. Our results, combined with our previous data with patients presenting mutation rate to 93,75% (n=15/16) in Brazilians patients with a confirmed clinical diagnosis. Also emphasize the higher numbers of intronic mutations and three large deletions 5ÙTR regions and the predominance of ACVRL1 over ENG mutations.</p>
ER  -