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Mixed Connective Tissue Disease

  • Reiji Kasukawa

Abstract

Since Klemperer proposed a concept on diffuse collagen disease in 1942, diseases occurring in the connective tissue have been understood to reveal their clinical symptoms in various tissues and organs with a variety of findings. This concept consequently allowed us to believe in the presence of a disease appearing between two established diseases or being an overlapped or mixed form of two diseases.

Keywords

Systemic Lupus Erythematosus Pulmonary Hypertension Connective Tissue Disease Undifferentiated Connective Tissue Disease Extractable Nuclear Antigen 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Alarcon-Segovia D (1976) Symptomatic Sjoegren’s syndrome in mixed connective tissue disease. J Rheumatol 3: 191–195PubMedGoogle Scholar
  2. Alarcon-Segovia D, Villarreal M (1987) Classification and diagnostic criteria for mixed connective tissue disease. In: Kasukawa R, Sharp GC (eds) Mixed Connective Tissue Disease and Antinuclear Antibodies. Elsevier, Amsterdam, pp 33–40Google Scholar
  3. Alarcon-Segovia D, Cardiel MH (1989) Comparison between three diagnostic criteria for mixed connective tissue disease. Studies of 593 patients. J Rheumatol 16: 328–334PubMedGoogle Scholar
  4. Amigues JM, Cantagrel A, Abbal M, Mazieres B, and the Autoimmunity Group of the Hospitals of Toulouse (1996) Comparative study of 4 diagnosis criteria sets in mixed connective tissue disease in patients with anti-RNP antibodies. J Rheumatol 23: 2055–2062 (see comments)Google Scholar
  5. Becker H, Langrock A, Federlin K (1992) Imbalance of CD4+ lymphocyte subsets in patients with mixed connective tissue disease. Clin Exp Immunol 88: 91–95PubMedCrossRefGoogle Scholar
  6. Black C, Isenberg DA (1992) Mixed connective tissue disease - goodbye to all that. Br J Rheumatol 31: 695–700 (see comments)Google Scholar
  7. Burdt MA, Hoffman RW, Dertscher SL, Wang GS, Johnson JC, Sharp GC (1999) Long-term outcome in mixed connective tissue disease: longitudinal clinical and serological findings. Arthritis Rheum 42: 899–909PubMedCrossRefGoogle Scholar
  8. Dahl M, Chalmers A, Wade J, Calverley D, Munt B (1992) Ten year survival of a patient with advanced hypertension and mixed connective tissue disease treated with immunosuppressive therapy. J Rheumatol 19: 1807–1809PubMedGoogle Scholar
  9. Dong RP, Kimura A, Hashimoto H, Akizuki M, Nishimura Y, Sasazuki T (1993) Difference in HLA-linked genetic background between mixed connective tissue disease and systemic lupus erythematosus. Tissue Antigens 41: 21–25CrossRefGoogle Scholar
  10. Doria A, Ghirardello A, de Zambiasi P, Ruffatti A, Gambari PF (1992) Japanese diagnostic criteria for mixed connective tissue disease in Caucasian patients. J Rheumatol 19: 259–264PubMedGoogle Scholar
  11. Esther JH, Sharp GC, Agia G, Hurst DJ, Maricq HR (1981) Pulmonary hypertension in a patient with connective tissue disease and antibody to nuclear ribonucleoprotein. Arthritis Rheum 24: 2105Google Scholar
  12. Filep JG, Bodolay E, Sipka S, Gyimesi E, Csipoe I, Szegedi G (1995) Plasma endothelin correlate with antiendothelial antibodies in patients with mixed connective tissue disease. Circulation 92: 2969–2974PubMedCrossRefGoogle Scholar
  13. Fritzler MJ, Ali R, Tan EM (1984) Antibodies from patients with mixed connective tissue disease react with heterogeneous nuclear ribonucleoprotein or ribonucleic acid (hn RNP/RNA) of the nuclear matrix. J Immunol 132: 1216–1222PubMedGoogle Scholar
  14. Gendi NS, Welsh KI, van Venrooij WJ, Vancheeswaran R, Girloy J, Black CM (1995) HLA type as a predictor of mixed connective tissue disease differentiation: ten-year clinical and immunologic follow up of 46 patients. Arthritis Rheum 38: 259–266PubMedCrossRefGoogle Scholar
  15. Graziano FM, Friedman LCV, Grossmaen J (1983) Pulmonary hypertension in a patient with mixed connective tissue disease. Clin Exp Rheumatol 1: 251–255PubMedGoogle Scholar
  16. Hassfeld W, Steiner G, Studinicka-Benke A, Skriner K, Graninger W, Fisher I, Smolen JS (1995) Autoimmune response to the spliceosome: an immunologic link between rheumatoid arthritis, mixed connective tissue disease, and systemic lupus erythematosus. Arthritis Rheum 38: 777–785PubMedCrossRefGoogle Scholar
  17. Hishikawa T, Ogasawara H, Kaneko H, Shirasawa T, Matsuura Y, Sekigawa I, Takasaki Y, Hashimoto H, Hirose S, Handa S, Nagasawa R, Maruyama N (1997) Detection of autoantibodies to a recombinant gag protein derived from human endogenous retrovirus clone 4–1 in autoimmune diseases. Viral Immunol 10: 137–147PubMedCrossRefGoogle Scholar
  18. Hoffman RW, Rettenmaier LJ, Takeda Y, Hewette JE, Pettersson I, Nyman U, Luger AM, Sharp GC (1990) Human autoantibodies against the 70-kd polypeptide of U1 small nuclear RNP are associated with HLA-DR 4 among connective tissue disease patients. Arthritis Rheum 33: 666–673PubMedCrossRefGoogle Scholar
  19. Holyst MM, Hill DL, Hoch SO, Hoffman RW (1997) Analysis of human T cell and B cell response against U small nuclear ribonucreoprotein 70-kd, B, and D polypeptides among patients with systemic lupus erythematosus and mixed connective tissue disease. Arthritis Rheum 40: 1493–1503Google Scholar
  20. Hosoda Y (1994) Pathology of pulmonary hypertension: A human and experimental study. Pathol Int 44: 241–267PubMedCrossRefGoogle Scholar
  21. Ikaeheimo H, Tiilikainen AS, Hameenkorpi R, Silvennoinen-Kassinen SH (1994) Different distribution of T cell receptor beta-chain haplotypes in mixed connective tissue disease and systemic lupus erythematosus. Ann Med 26: 129–132CrossRefGoogle Scholar
  22. Kasukawa R, Tojo T, Miyawaki S, Yoshida H, Tanimoto K, Nobunaga M, Suzuki T, Takasaki Y, Tamura T (1987) Preliminary diagnostic criteria for classification of mixed connective tissue disease: In: Kasukawa R, Sharp GC (eds) Mixed Connective Tissue Disease and Antinuclear Antibodies. Elsevier, Amsterdam, pp 41–47Google Scholar
  23. Kasukawa R, Nishimaki T, Takagi T, Miyawaki S, Yokohari R, Tsunematsu T (1990) Pulmonary hypertension in connective tissue disease. Clinical study of sixty patients in multiinstitutional study. Clin Rheum 9: 56–62Google Scholar
  24. Klemperer P, Pollack AD, Baehr G (1942) Diffuse collagen diseases, acute disseminated lupus erythematosus and diffuse scleroderma. JAMA 119: 331–332CrossRefGoogle Scholar
  25. Komatireddy GR, Wang GS, Sharp GC, Hoffman RW (1997) Antiphospholipid antibodies among anti-U1–70 kda autoantibody positive patients with mixed connective tissue disease. J Rheumatol 24: 319–322 (see comments)Google Scholar
  26. Le Roy EC, Maricq HR, Kahaleh MB (1980) Undifferentiated connective tissue syndromes. Arthritis Rheum 23: 341–343CrossRefGoogle Scholar
  27. Lerner MR, Steitz JA (1979) Antibodies to small nuclear RNAs complexed with proteins are produced by patients with systemic lupus erythematosus. Proc Natl Acad Sci USA 76: 5495–5499PubMedCrossRefGoogle Scholar
  28. Lundberg I, Antohi S, Takeuki K, Arnett F, Steiner G, Brumeanu TD, Klareskog L, Bona C (2000) Kinetics of anti-fibrillin-1 autoantibodies in MCTD and CREST syndrome. J Autoimmun 14: 267–274PubMedCrossRefGoogle Scholar
  29. Mairesse N, Kahn MF, Appelboom T (1993) Antibodies to the constitutive 73-kd heat shock protein: A new marker for mixed connective tissue disease? Am J Med 95: 595–600PubMedCrossRefGoogle Scholar
  30. Miyata M, Kida S, Kanno T, Suzuki K, Watanabe H, Kaise S, Nishimaki T, Hosoda Y, Kasukawa R (1992) Pulmonary hypertension in MCTD: Report of two cases with anticardiolipin antibody. Clin Rheumatol 11: 195–201Google Scholar
  31. Miyata M, Suzuki K, Sakuma F, Watanabe H, Kaise S, Nishimaki T, Kasukawa R (1993) Anticardiolipin antibodies are associated with pulmonary hypertension in patients with mixed connective tissue disease or systemic lupus erythemotosus. Int Arch Allergy Immunol 100: 351–354PubMedCrossRefGoogle Scholar
  32. Miyawaki S, Kasukawa R, Nishimaki T, Onodera H (1988) Treatment and prognosis of patients with mixed connective tissue disease. A multi-center co-operative study. In: Kasukawa R (ed) 1987 Annual Report of The Research Committee of Japanese Ministry of Health and Welfare for Mixed Connective Tissue Disease pp 31–41 (in Japanese, Abstract in English)Google Scholar
  33. Nimelstein SH, Brody S, Mc Shane D, Holman HR (1980) Mixed connective tissue disease: a subsequent evaluation of the original 25 patients. Medicine (Baltimore) 59: 239–248Google Scholar
  34. Nishimaki T, Aotsuka S,Kondo H, Yamamoto K, Takasaki Y, Sumiya M, Yokohari R (1999) Immunological analysis of pulmonary hypertension’ in connective tissue disease. J Rheumatol 26: 2357–2362Google Scholar
  35. Okawa-Takatsuji M, Aotsuka S, Uwatoko M, Sumiya M, Yokohari R (1994) Enhanced synthesis of cytokines by peripheral blood monocytes cultured in the presence of autoantibodies against Ul-ribonucreoprotein and/or negatively charged molecules: implication in the pathogenesis of pulmonary hypertension in mixed connective tissue disease ( MCTD ). Clin Exp Immunol 98: 427–433Google Scholar
  36. Okubo M, Kurokawa M, Ohto H, Nishimaki T, Nishioka K, Kasukawa R, Yamamoto K (1994) Clonotype analysis of peripheral blood T cells and autoantigen-reactive T cells from patients with mixed connective tissue disease. J Immunol 153: 3784–3790PubMedGoogle Scholar
  37. Ozawa T, Ninomiya Y, Honma T, Kikuchi M, Sato T, Nakano M, Arakawa M (1995) Increased serum angiotensin-1 converting enzyme activity in patients with mixed connective tissue disease and pulmonary hypertension. Scand J Rheumatol 24: 38–43PubMedCrossRefGoogle Scholar
  38. Pepke-Zaba J, Higenbottam TW, Dinh-Xuan AT, Stone D, Wallwork J (1991) Inhaled nitric oxide as a cause of selective pulmonary vasodilatation in pulmonary hypertension. Lancet 338: 1173–1174PubMedCrossRefGoogle Scholar
  39. Query CC, Keene JD (1987) A human autoimmune protein associated with U1 RNA contains a region of homology that is cross reactive with retroviral p30gag antigen. Cell 51: 211–220PubMedCrossRefGoogle Scholar
  40. Reichlin M (1976) Problems in differentiating SLE and mixed connective tissue disease. N Engl J Med 295: 1194–1195PubMedCrossRefGoogle Scholar
  41. Ruuska P, Hameenkorpi R, Forsberg S, Julkunen H, Maekitalo R, Ilonen J,Tilikainen A (1992) Differences in HLA antigens between patients with mixed connective tissue disease and systemic lupus erythematosus. Ann Rheum Dis 51: 52–55Google Scholar
  42. Sato S, Hasegawa M, Ihn H, Kikuchi K, Takehara K (2000) Clinical significance of antinuclear matrix antibody in serum from patients with anti-U1 RNP antibody. Arch Dermatol Res 292: 55–59PubMedCrossRefGoogle Scholar
  43. Sawai T, Murakami K, Kasukawa R, Kyogoku M (1997) Histopathological study of mixed connective tissue disease for 32 autopsy cases in Japan. Jpn J Rheumatol 7: 279–292CrossRefGoogle Scholar
  44. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR (1972) Mixed connective tissue disease: an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen ( ENA ). Am J Med 52: 148–159Google Scholar
  45. Sharp GC (1987) Diagnostic criteria for classification of MCTD. In: Kasukawa R, Sharp GC (eds) Mixed Connective Tissue Disease and Antinuclear Autoantibodies. Elsevier, Amsterdam, pp 23–32Google Scholar
  46. Skriner K, Sommergruber WH, Tremmel V, Fischer I, Barta A, Smolen JS, Steiner G (1997) Anti-A2/RA33 autoantibodies are directed to the RNA binding region of A2 protein of the heterogeneous nuclear ribonucleoprotein complex: differential epitope recognition in rheumatoid arthritis, systemic lupus erythematosus and mixed connective tissue disease. J Clin Invest 100: 127–135PubMedCrossRefGoogle Scholar
  47. Smolen JS, Steiner G (1998) Mixed connective tissue disease. To be or not to be? Arthritis Rheum 41: 768–777PubMedCrossRefGoogle Scholar
  48. Steiner G, Skriner K, Smolen JS (1996) Autoantibodies to the A/B proteins of the heterogeneous nuclear ribonucleoprotein complex: Novel tools for the diagnosis of rheumatic diseases. Int Arch Allergy Immunol 111: 314–319Google Scholar
  49. Sullivan WD, Hurst DJ, Harmon CE, Esther JH, Agia GA, Maltby JD, Lillard SB, Held CN, Wolfe JF, Sunderrajan EV, Maricq HR, Sharp GC (1984) Prospective evaluation emphasizing pulmonary involvement in patients with mixed connective tissue disease. Medicine 63: 92–107PubMedCrossRefGoogle Scholar
  50. Talken BL, Lee DR, Caldwell CW, Quinn TP, Schaefermeyer KR, Hoffman RW (1999) Analysis of T cell receptors specific for U1–70 kD small nuclear ribonucleoprotein autoantigen: The alpha chain complementary determining region three is highly conserved among connective tissue disease patients. Human Immunol 60: 200–208Google Scholar
  51. Tan FK, Arnett FC, Antohi S, Saito S, Mirarchi A, Spiera H, Sasaki T, Shoichi O, Takeuchi K, Pandy JP, Silver RM, LeRoy C, Postlethwaite AE, Bona CA (1999) Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. J Immunol 163: 1066–1072PubMedGoogle Scholar
  52. Tojo T, Ogasawara T, Aotsuka S, Yokohari R (1991) Major causes of death and five year survival rates in mixed connective tissue disease. In: Yokohari R (ed) 1999 Annual Report of The Research Committee of Japanese Ministry of Health and Welfare for Mixed Connective Tissue Disease. Pp 10–13 (in Japanese, Abstract in English)Google Scholar
  53. van den Hoogen FH, Spronk PE, Boerbooms AM, Bootsma H, de Rooij DJ, Kallenberg CG, van de Putte LB (1994) Long-term follow up of 46 patients with anti-(U1) sn RNP antibodies. Br J Rheumatol 33: 1117–1120PubMedCrossRefGoogle Scholar
  54. Weckmann AL, Granados J, Cardiel MH, Andrede F, Vargas-Alarcon G, Alcocer-Varela J, Alarcon-Segovia D (1999) Immunogenetics of mixed connective tissue disease in Mexican Mestizo population. Clin Exp Rheumatol 17: 91–94PubMedGoogle Scholar
  55. Wiemann C, Bodenbach L, Pyerin W (1993) Antibodies to casein kinase II in sera of patients with mixed connective tissue disease: Evaluation with recombinant protein. Clin Chem 39: 2492–2494Google Scholar

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© Springer-Verlag Wien 2001

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  • Reiji Kasukawa

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