RARE GENETIC DISEASES IN HUMANS IN NORTHEASTERN BRAZIL: A SYSTEMATIC REVIEW

Abstract

Rare genetic diseases in humans affect 65 out of every 100,000 inhabitants. In Brazil, more than 13 million people are affected. The Northeast region has a higher rate than the rest of the country. To identify the scientific panorama of the Brazilian Northeast in the last 20 years, a systematic review was carried out in the following online databases: Scopus, PubMed/MEDLINE, Web of Science, Biomed Central and JAMA. The following Boolean arguments and operators were used to search: "Rare Genetic Diseases" AND "Northeastern" AND "Brazil" AND "Humans". The data were evaluated on the online platform, 'Rayann', in a blind review. The websites "OMIM" and "ORPHANET" were used to obtain genetic information. 797 records were found, but after the selection and filtering were completed, only 29 articles remained. Mucopolysaccharidosis was more frequent, with 27%. Cystic Fibrosis and Berardinelli-Seip Syndrome had 7%, and all the rest of the diseases corresponded to 50% of the remaining results, totaling 30 diseases, as one article cited two diseases. Bahia obtained 36% of rare diseases and had the largest number of research institutions; Pernambuco 24%; Ceará 16%; Paraíba 12% and Alagoas, Maranhão and Rio Grande do Norte, 4%, in each, respectively. The Northeast region was reported as the place of occurrence in 16% of the cases. A total of 32 genes were identified, most of them with autosomal dominant inheritance. The Northeast had superiority in research institutions and it is concluded that despite the increase in publications from 2016 to 2018, more investments are needed in this important field of research.