Year: 2023
Type: article
Study design: Observational Study
Abstract: ABSTRACT Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0–15.6 years) and median age at diagnosis 6.9 years (0–21.9 years); 111 (73%) were children (0–9 years old), and 41 (27%) were adolescents and young adults (AYA) (10–21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis.
Source: Revista Paulista de Pediatria
Authors: Daniela Gerent Petry Piotto, Katia Kozu, Nádia Emi Aikawa, Pedro Lopes Carneiro, María Martha Katsicas, Sheila Knupp Feitosa de Oliveira, Taciana de Albuquerque Pedrosa Fernandes, Claudia Saad Magalhães, Ana Luiza Garcia Cunha, Blanca Elena Rios Gomes Bica, Carlos Nobre Rabelo Júnior, Cristina Battagliotti, Erica Naomi Naka Matos, Flavia Patrícia Sena Teixeira Santos, Flavio Roberto Sztajnbok, Liliana Bezrodnik, Marcia Bandeira, Marta Cristine Felix Rodrigues, Pablo García Munittis, Simone Appenzeller, Teresa Cristina Martins Robazzi, Gleice Clemente, Clovis Artur Silva, Maria Teresa Terreri
Institutions: Universidade Federal de São Paulo, Universidade de São Paulo, Garrahan Hospital, Universidade Federal do Rio de Janeiro, Universidade Estadual Paulista (Unesp), Hospital Geral de Fortaleza, Universidade Federal de Mato Grosso do Sul, Universidade Federal de Minas Gerais, Hospital El Cruce, Universidade Estadual de Campinas (UNICAMP), Universidade Federal da Bahia
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4387888392