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Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis
  1. M Arvio1,
  2. K Laiho2,
  3. M Kauppi2,
  4. M Peippo3,
  5. P Leino4,
  6. H Kautiainen2,
  7. O Kaipiainen-Seppänen5,
  8. I Mononen6
  1. 1The Pääjärvi Centre, Lammi, Department of Pediatric Neurology, Tampere University Hospital, Finland
  2. 2The Rheumatism Foundation Hospital, Heinola, Finland
  3. 3The Family Federation of Finland, Helsinki, Finland
  4. 4Department of Clinical Chemistry, Kuopio University Hospital, Finland
  5. 5Department Internal Medicine, Kuopio University Hospital
  6. 6Department of Clinical Chemistry and Hematology, Turku University Hospital, Finland
  1. Correspondence to:
    Dr M Arvio, Riihitie 7, 16900 Lammi, Finland;
    arvio{at}mail.htk.fi

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

https://doi.org/10.1136/ard.61.2.180

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