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Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females.
Sodré, Luciana Senra de Souza; Huaira, Rosália Maria Nunes Henriques; Bastos, Marcus Gomes; Colugnati, Fernando Antônio Basile; Coutinho, Marcelo Paula; Fernandes, Natália Maria da Silva.
Afiliação
  • Sodré LSS; Federal University of Juiz de Fora, Juiz de Fora, Brazil.
  • Huaira RMNH; Federal University of Juiz de Fora, Juiz de Fora, Brazil.
  • Bastos MG; Federal University of Juiz de Fora, Juiz de Fora, Brazil.
  • Colugnati FAB; Federal University of Juiz de Fora, Juiz de Fora, Brazil.
  • Coutinho MP; Faculty of Medicine of Campos, Juiz de Fora, Brazil.
  • Fernandes NMDS; Federal University of Juiz de Fora, Juiz de Fora, Brazil.
Kidney Blood Press Res ; 42(6): 1258-1265, 2017.
Article em En | MEDLINE | ID: mdl-29248912
BACKGROUND/AIMS: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease. METHODS: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis. All participants signed a Free and Informed Consent Form and a questionnaire was applied. The questionnaire data were analyzed using a computerized algorithm. This program/algorithm analyzes and separates patients into: discarded, patients unlikely to have Fabry disease; suspect, patients who submitted to blood collection. The blood of suspect patients was collected on filter paper for enzyme measurement and genetic testing. A descriptive data analysis was performed and the likelihood ratio was determined. RESULTS: The general prevalence was 0.19% and after use of algorithm was 0.87%. Although more men were screened (59.3%), the prevalence was higher in women (65.1%). The most prevalent signs and symptoms were: heart disease (60.6%), decreased or lack of sweating (42.3%), heat and cold intolerance (28.2%), and pain crises spreading throughout the body (26.8%). CONCLUSION: The prevalence was higher in women, and the most prevalent symptom was heart diseases.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Nefropatias Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Screening_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Kidney Blood Press Res Assunto da revista: NEFROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Nefropatias Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Screening_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Kidney Blood Press Res Assunto da revista: NEFROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça