Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.
Luciana Paim-MarquesAmanda Virginia CavalcanteIslane VerçosaPaula CarneiroMarcia Souto-MaiorErlane MarquesSimone AppenzellerPublished in: Pediatric rheumatology online journal (2021)
The incidence of FD in our cohort was 1.12%. Intronic variants were associated with symptoms previously described in the literature. Screening for FD in JIA may be a reasonable strategy for those with an atypical pattern of pain.