Fabry disease incidence in Juvenile Idiopathic Arthritis coh
Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A. During childhood, classic FD symptomatology is rare. The majority of children may show non-specific symptoms, including in the musculoskeletal system.

This study aimed to identify the frequency of FD in a JIA cohort, characterizing early clinical symptoms, enzyme titers, and GLA genotyping.

Children with JIA 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, one male patient presented pathogenic mutation in GLA gene, one female patient had a variant of uncertain significance c.38C?>?T.

--Three additional (3.4%) patients had the enzymatic activity of alpha-galactosidase slightly decreased.

--The presence of intronic variants in 44.44% of patients in this cohort was also observed. These variants and their combination were associated with clinical symptoms in this cohort.

In conclusion, FD was 1.12 % in the cohort. Symptoms previously identified in the literature have been connected with intronic mutations. FD screening in JIA could be an appropriate method for people with an abnormal pain pattern.

Source: https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-021-00563-9
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