Article Text
Abstract
Objective: To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease.
Methods: A group of 173 unrelated patients with rheumatoid arthritis (RA) but with no family members with AGU each gave a blood sample for AGUfin major mutation DNA analysis. A group of 131 AGU carriers who were parents of patients with AGU completed a questionnaire on joint symptoms and gave a blood sample for rheumatoid factor (RF) analysis. Eight RF positive parents with prolonged joint symptoms had a rheumatological evaluation.
Results: Six patients (1/28) with RA were carriers of the AGUfin major mutation, whereas the carrier frequency among Finns in general is 1/50 to 1/85. Three AGU carriers had chronic arthritis (2.3%), and 17 (13%) were RF positive; the respective percentages among Finns in general are 1.4% and 5%.
Conclusion: As for AGU disease, carrier status may also predispose to chronic arthritis.
- aspartylglucosaminuria
- carrier
- autosomal recessive disorder
- chronic arthritis
- AGU, aspartylglucosaminuria
- RA, rheumatoid arthritis
- RF, rheumatoid factor
- CI, confidence interval