Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Author:

Paim-Marques Luciana,Cavalcante Amanda Virginia,Verçosa Islane,Carneiro Paula,Souto-Maior Marcia,Marques Erlane,Appenzeller SimoneORCID

Abstract

Abstract Background Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare. The majority of children may show non-specific symptoms, including in the musculoskeletal system. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients is unknown. Objective This study aimed to identify the frequency of FD in a JIA cohort, characterizing early clinical symptoms, enzyme titers, and GLA genotyping. Methods Children with JIA followed in a tertiary Children Hospital cohort were selected. Clinical, laboratory and familiar information were recorded. Molecular genetic testing to detect GLA gene mutations was performed in girls and enzymatic analysis in boys. Results In 89 patients (56.2% female, age at disease onset: 8.93 ± 4.35 years), one male (1.12%) patient presented pathogenic mutation in GLA gene, c.1244 T > C p.L415P, one female patient had a variant of uncertain significance c.38C > T (p.Ala13Val). Three additional (3.4%) patients had the enzymatic activity of alpha-galactosidase slightly decreased. We observed the presence of intronic variants in 44.44% of patients in our cohort: c.1000-22C > T; c.370-81_-77del; c.640-16A > G; c.10C > T; c.548-125C > G and c.-12G > A. These variants and their combination were associated with clinical symptoms in our cohort. Conclusions 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.

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Springer Science and Business Media LLC

Subject

Immunology and Allergy,Rheumatology,Pediatrics, Perinatology, and Child Health

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. A family case of fabry disease in the practice of a pediatric rheumatologist;Archives of Pediatrics and Pediatric Surgery;2024-03-26

2. Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy;Journal of Pediatric Endocrinology and Metabolism;2023-05-31

3. Multidisciplinary Management of Fabry Disease: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-03

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