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Current Rheumatology Reports
Erschienen in: Current Rheumatology Reports 5/2016

01.05.2016 | Pediatric Rheumatology (S Ozen, Section Editor)

Pediatric Mixed Connective Tissue Disease

verfasst von: Roberta A. Berard, Ronald M. Laxer

Erschienen in: Current Rheumatology Reports | Ausgabe 5/2016

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Abstract

Pediatric-onset mixed connective tissue disease is among the rare disease entities in pediatric rheumatology and includes features of arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus, and systemic sclerosis. Accurate recognition and diagnosis of the disease is paramount to prevent long-term morbidity. Advances in the genetic and immunologic understanding of the factors involved in the etiopathogenesis provide an opportunity for improvements in prognostication and targeted therapy. The development of a multinational cohort of patients with mixed connective tissue disease would be invaluable to provide more updated data regarding the clinical presentation, to develop a standardized treatment approach, disease activity and outcome tools, and to provide data on long-term outcomes and comorbidities.
Literatur
1.
Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease—an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med. 1972;52:148–59.CrossRefPubMed
2.
Singsen BH et al. Mixed connective tissue disease in childhood. A clinical and serologic survey. J Pediatr. 1977;90:893–900.CrossRefPubMed
3.
Fraga A, Gudino J, Ramos-Niembro F, Aiarcon-Segovia D. Mixed connective tissue disease in childhood. Relationship Sjogren’s syndrome. Am J Dis Child. 1978;132:263–5.CrossRefPubMed
4.
Aringer M, Steiner G, Smolen JS. Does mixed connective tissue disease exist? Yes. Rheum Dis Clin North Am. 2005;31:411–20.CrossRefPubMed
5.
Smolen JS, Steiner G. Mixed connective tissue disease: to be or not to be? Arthritis Rheum. 1998;41:768–77.CrossRefPubMed
6.
Burdt MA et al. Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum. 1999;42:899–909.CrossRefPubMed
7.
Nimelstein SH, Brody S, McShane D, Holman HR. Mixed connective tissue disease: a subsequent evaluation of the original 25 patients. Medicine (Baltimore). 1980;59:239–48.CrossRef
8.
Gendi NS et al. HLA type as a predictor of mixed connective tissue disease differentiation. Ten-year clinical and immunogenetic follow up of 46 patients. Arthritis Rheum. 1995;38:259–66.CrossRefPubMed
9.
Swanton J, Isenberg D. Mixed connective tissue disease: still crazy after all these years. Rheum Dis Clin North Am. 2005;31:421–36.CrossRefPubMed
10.
Black C, Isenberg DA. Mixed connective tissue disease—goodbye to all that. Br J Rheumatol. 1992;31:695–700.CrossRefPubMed
11.
Kahn MF, Appelboom T. In: Kahn MF, Peltier AP, Meyer O, editors. Les Maladies Systemiques. Paris: Flammarion; 1991. p. 545–56.
12.
Sharp GC. In: Kasukawa R, Sharp GC, editors. Mixed connective tissue diseases and anti-nuclear antibodies. Amsterdam: Excerpta Medica; 1987. p. 23–32.
13.
Kasukawa R. In: Kasukawa R, Sharp GC, editors. Mixed connective tissue disease and anti-nuclear anti-bodies. Amsterdam: Exerpta Medica; 1987. p. 41–8.
14.
Alarcon-Segovia D, Villarreal M. In: Kasukawa R, Sharp GC, editors. Mixed connective tissue disease and anti-nuclear anti-bodies. Amsterdam: Excerpta Medica; 1987. p. 33–40.
15.
Amigues JM, Cantagrel A, Abbal M, Mazieres B. Comparative study of 4 diagnosis criteria sets for mixed connective tissue disease in patients with anti-RNP antibodies. Autoimmunity Group of the Hospitals of Toulouse. J Rheumatol. 1996;23:2055–62.PubMed
16.
Cappelli S et al. “To be or not to be,” ten years after: evidence for mixed connective tissue disease as a distinct entity. Semin Arthritis Rheum. 2012;41:589–98.CrossRefPubMed
17.
Lage LV, Caleiro MT, Carvalho JF. Proposed disease activity criteria for mixed connective tissue disease. Lupus. 2010;19:223–4.CrossRefPubMed
18.
Flam ST et al. The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. Rheumatology (Oxford). 2015;54:528–35.CrossRef
19.
Hoffman RW, Maldonado ME. Immune pathogenesis of mixed connective tissue disease: a short analytical review. Clin Immunol. 2008;128:8–17.CrossRefPubMed
20.
Keith MP et al. Anti-ribonucleoprotein antibodies mediate enhanced lung injury following mesenteric ischemia/reperfusion in Rag-1(−/−) mice. Autoimmunity. 2007;40:208–16.CrossRefPubMed
21.
Bodolay E et al. Anti-endothelial cell antibodies in mixed connective tissue disease: frequency and association with clinical symptoms. Clin Exp Rheumatol. 2004;22:409–15.PubMed
22.
Petty R, Laxer R, Lindsey C, Wedderburn L. Textbook of pediatric rheumatology. Philadelphia: Elsevier; 2016.
23.•
Gunnarsson R et al. Associations between anti-Ro52 antibodies and lung fibrosis in mixed connective tissue disease. Rheumatology (Oxford). 2016;55:103–8. This study examines the serologic risk factors for ILD in MCTD and the authors identified the presence of anti-Ro52 as a potential risk factor for pulmonary fibrosis.CrossRef
24.
van der Net J, Wissink B, van Royen A, Helders PJ, Takken T. Aerobic capacity and muscle strength in juvenile-onset mixed connective tissue disease (MCTD). Scand J Rheumatol. 2010;39:387–92.CrossRefPubMed
25.
Kotajima L et al. Clinical features of patients with juvenile onset mixed connective tissue disease: analysis of data collected in a nationwide collaborative study in Japan. J Rheumatol. 1996;23:1088–94.PubMed
26.
Mier RJ et al. Pediatric-onset mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31:483–96. vii.CrossRefPubMed
27.
Sedej K et al. Autoimmune hepatitis as a presenting manifestation of mixed connective tissue disease in a child. Case report and review of the literature. Pediatr Rheumatol Online J. 2015;13:47.CrossRefPubMedPubMedCentral
28.
Hajas A et al. Sensorineural hearing loss in patients with mixed connective tissue disease: immunological markers and cytokine levels. J Rheumatol. 2009;36:1930–6.CrossRefPubMed
29.
Aalokken TM et al. Chest abnormalities in juvenile-onset mixed connective tissue disease: assessment with high-resolution computed tomography and pulmonary function tests. Acta Radiol. 2009;50:430–6.CrossRefPubMed
30.
Bodolay E et al. Evaluation of interstitial lung disease in mixed connective tissue disease (MCTD). Rheumatology (Oxford). 2005;44:656–61.CrossRef
31.
Sullivan WD et al. A prospective evaluation emphasizing pulmonary involvement in patients with mixed connective tissue disease. Medicine (Baltimore). 1984;63:92–107.CrossRef
32.
Hetlevik, S., Flato, B., Rygg, M., Nordal, E. & Lilleby, V. Disease activity, disease damage and predictive factors in juvenile onset mixed connective tissue disease—a Norwegian nationwide study. Arthritis Rheum 67 (2015).
33.••
Hof D et al. Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. Arthritis Res Ther. 2005;7:R302–9. This recent study presents new outcome data for 48 patients with MCTD. The study presents the first data of potential predictors of damage and active disease in pediatric MCTD.CrossRefPubMedPubMedCentral
34.
Szodoray P et al. Distinct phenotypes in mixed connective tissue disease: subgroups and survival. Lupus. 2012;21:1412–22.CrossRefPubMed
35.
Tiddens HA et al. Juvenile-onset mixed connective tissue disease: longitudinal follow-up. J Pediatr. 1993;122:191–7.CrossRefPubMed
36.
Jais X et al. Immunosuppressive therapy in lupus- and mixed connective tissue disease-associated pulmonary arterial hypertension: a retrospective analysis of twenty-three cases. Arthritis Rheum. 2008;58:521–31.CrossRefPubMed
37.
Rubin LJ et al. Bosentan therapy for pulmonary arterial hypertension. N Engl J Med. 2002;346:896–903.CrossRefPubMed
38.
Jovancevic B, Lindholm C, Pullerits R. Anti B-cell therapy against refractory thrombocytopenia in SLE and MCTD patients: long-term follow-up and review of the literature. Lupus. 2013;22:664–74.CrossRefPubMed
39.
40.
Tsai YY et al. Fifteen-year experience of pediatric-onset mixed connective tissue disease. Clin Rheumatol. 2010;29:53–8.CrossRefPubMed
41.
Wallace CA et al. American College of Rheumatology provisional criteria for defining clinical inactive disease in select categories of juvenile idiopathic arthritis. Arthritis Care Res (Hoboken). 2011;63:929–36.CrossRef
42.
Knight A et al. Depression and anxiety and their association with healthcare utilization in pediatric lupus and mixed connective tissue disease patients: a cross-sectional study. Pediatr Rheumatol Online J. 2014;12:42.CrossRefPubMedPubMedCentral
43.
Knight A et al. Identifying differences in risk factors for depression and anxiety in pediatric chronic disease: a matched cross-sectional study of youth with lupus/mixed connective tissue disease and their peers with diabetes. J Pediatr. 2015;167:1397–1403 e1.CrossRefPubMed
44.•
Soltesz P et al. Endothelial cell markers reflecting endothelial cell dysfunction in patients with mixed connective tissue disease. Arthritis Res Ther. 2010;12:R78. This study highlights the prevalence and risk factors for mood disorders in MCTD as well as the lower rates of visits for mental health care.CrossRefPubMedPubMedCentral
Metadaten
Titel
Pediatric Mixed Connective Tissue Disease
verfasst von
Roberta A. Berard
Ronald M. Laxer
Publikationsdatum
01.05.2016
Verlag
Springer US
Erschienen in
Current Rheumatology Reports / Ausgabe 5/2016
Print ISSN: 1523-3774
Elektronische ISSN: 1534-6307
DOI
https://doi.org/10.1007/s11926-016-0576-x

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