Ertugrul KIYKIM1, Sezgin ŞAHİN2, Tanyel ZUBARIOĞLU1, Kenan BARUT2, Amra ADROVIC2, Mehmet Şerif CANSEVER3, Ayşe Çiğdem AKTUĞLU ZEYBEK1, Özgür KASAPÇOPUR1

1Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa-Cerrahpasa Medical Faculty, Istanbul, Turkey
2Department of Pediatrics, Division of Rheumatology, Istanbul University Cerrahpasa-Cerrahpasa Medical Faculty, Istanbul, Turkey
3Central Laboratory, Istanbul University Cerrahpasa-Cerrahpasa Medical Faculty, Istanbul, Turkey

Abstract

Objectives: This study aims to determine the prevalence of Fabry disease (FD) among patients with juvenile systemic lupus erythematosus (SLE).

Patients and methods: This cross-sectional study included 76 juvenile SLE patients (12 males; 64 females; mean age 16±3.3 years; range, 8 to 23.5 years) who were diagnosed according to 1997 update of the 1982 American College of Rheumatology revised criteria for classification of SLE. Since the majority of patients were female, alpha-galactosidase A gene was investigated for mutations resulting in FD. Lysosomal accumulation of globotriaosylsphingosine (lyso-Gb3) was further evaluated in mutation positive subjects by using dried blood spot testing.

Results: Alpha-galactosidase A gene screening did not yield any positive mutation in our 74 subjects. However, a heterozygous p.D313Y mutation was found in two females. These subjects were further investigated for lyso-Gb3 levels in dried blood spot samples and the levels of lyso-Gb3 being normal lead to exclusion of FD in these two patients.

Conclusion: We do not suggest routine screening of FD in patients with juvenile SLE; however, prospective studies with larger sample sizes are needed for further analysis.