Childhood Arthritis

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NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain

  1. Carlos D. Rosé1,*,
  2. Juan I. Aróstegui2,
  3. Tammy M. Martin3,
  4. Graciela Espada4,
  5. Lisabeth Scalzi5,
  6. Jordi Yagüe2,
  7. James T. Rosenbaum6,
  8. Consuelo Modesto7,
  9. Maria Cristina Arnal7,
  10. Rosa Merino8,
  11. Julia García-Consuegra8,
  12. María Antonia Carballo Silva9,
  13. Carine H. Wouters10

Article first published online: 28 MAY 2009

DOI: 10.1002/art.24533

Issue

Arthritis & Rheumatism

Arthritis & Rheumatism

Volume 60, Issue 6, pages 1797–1803, June 2009

Additional Information

How to Cite

Rosé, C. D., Aróstegui, J. I., Martin, T. M., Espada, G., Scalzi, L., Yagüe, J., Rosenbaum, J. T., Modesto, C., Cristina Arnal, M., Merino, R., García-Consuegra, J., Carballo Silva, M. A. and Wouters, C. H. (2009), NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain. Arthritis & Rheumatism, 60: 1797–1803. doi: 10.1002/art.24533

Author Information

  1. 1

    Thomas Jefferson University, Philadelphia, Pennsylvania, and DuPont Children's Hospital, Wilmington, Delaware

  2. 2

    Hospital Clinic, Barcelona, Spain

  3. 3

    Casey Eye Institute, and Oregon Health and Science University, Portland, Oregon

  4. 4

    Hospital de Niños Ricardo Gutiérrez, and Buenos Aires University, Buenos Aires, Argentina

  5. 5

    Pennsylvania State University College of Medicine, Hershey

  6. 6

    Oregon Health and Science University, Portland

  7. 7

    Hospital Vall d'Hebron, Barcelona, Spain

  8. 8

    Hospital La Paz, Madrid, Spain

  9. 9

    Hospital Xeral, Vigo, Spain

  10. 10

    University Hospital Gasthuisberg, Leuven, Belgium

*Division of Rheumatology, DuPont Children's Hospital, 1600 Rockland Road, Wilmington, DE 19899

Publication History

  1. Issue published online: 28 MAY 2009
  2. Article first published online: 28 MAY 2009
  3. Manuscript Accepted: 20 FEB 2009
  4. Manuscript Received: 14 OCT 2008

Funded by

  • Research to Prevent Blindness Career Development award
  • NIH. Grant Number: R01-EY-013139

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Abstract

Objective

To study the phenotype characteristics of the largest to date cohort of patients with pediatric granulomatous arthritis (PGA) and documented mutations in the NOD2 gene.

Methods

We analyzed merged data from 2 prospective cohorts of PGA patients, the International PGA Registry and a Spanish cohort. A systematic review of the medical records of interest was performed to identify phenotype characteristics.

Results

Forty-five patients with PGA (23 sporadic cases and 22 from familial pedigrees) and documented NOD2 mutations were identified and formed the basis of the study. Of these 45 patients, 18 had the R334W-encoding mutation, 18 had R334Q, 4 had E383K, 3 had R587C, 1 had C495Y, and 1 had W490L. The majority of patients manifested the typical triad of dermatitis, uveitis, and arthritis. In contrast, in 13 patients, the following “atypical” manifestations were noted: fever, sialadenitis, lymphadenopathy, erythema nodosum, leukocytoclastic vasculitis, transient neuropathy, granulomatous glomerular and interstitial nephritis, interstitial lung disease, arterial hypertension, hypertrophic cardiomyopathy, pericarditis, pulmonary embolism, hepatic granulomatous infiltration, splenic involvement, and chronic renal failure. In addition, 4 individuals who were asymptomatic carriers of a disease-causing mutation were documented.

Conclusion

NOD2-associated PGA can be a multisystem disorder with significant visceral involvement. Treating physicians should be aware of the systemic nature of this condition, since some of these manifestations may entail long-term morbidity.

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