Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. Issue 2 (1st February 2002)

• Record Type: Journal Article
• Authors: Arvio, M; Laiho, K; Kauppi, M; Peippo, M; Leino, P; Kautiainen, H; Kaipiainen-Seppänen, O; Mononen, I
• Is Part Of: Annals of the rheumatic diseases. Volume 61:Issue 2(2002)
• Page Start: 180
• Page End: 181
• Publication Date: 2002-02-01
• Subjects: aspartylglucosaminuria -- carrier -- autosomal recessive disorder -- chronic arthritis; AGU, aspartylglucosaminuria -- RA, rheumatoid arthritis -- RF, rheumatoid factor -- CI, confidence interval; Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/ard.61.2.180
• Languages: English
• ISSNs: 0003-4967

Abstract

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 AGUf in 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 AGUf in 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.