Mixed connective tissue disease

@article{Venables2006MixedCT,
  title={Mixed connective tissue disease},
  author={Patrick J. W. Venables},
  journal={Lupus},
  year={2006},
  volume={15},
  pages={132 - 137}
}
  • P. Venables
  • Published 1 March 2006
  • Medicine, Biology
  • Lupus
Mixed connective tissue disease (MCTD) was first described in 1972 as a disease syndrome with overlapping features of systemic sclerosis, systemic lupus erythematosus (SLE) and polymyositis associated with antibodies to RNAse sensitive extractable nuclear antigen. When the antigen was subsequently characterized as polypeptides on the U1 ribonuclear protein component of the splicesosome (U1RNP), MCTD became the first rheumatic disease syndrome to be defined by a serologic test. Clinical features… 

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References

SHOWING 1-10 OF 21 REFERENCES
Is MCTD a distinct entity ? Comparison of clinical and laboratory findings in MCTD, SLE, PSS, and RA patients
TLDR
At the end of the follow- up period, 70 per cent of the cases initially diagnosed as MCTD evolved to a more classical connective tissue disease, i.e., either PSS or SLE.
Undifferentiated, overlapping, and mixed connective tissue diseases.
TLDR
The long-term implications of making a diagnosis of a definitive connective tissue disease before all the required criteria are met should be kept in mind because the patient may never develop the disease and yet be subjected to psychological, social, and economic hardships.
Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings.
TLDR
These patients demonstrated the typical immunogenetic, clinical, and serologic findings of MCTD, and the condition rarely evolved into systemic lupus erythematosus or systemic sclerosis.
[Mixed connective tissue disease].
  • A. Prøven
  • Medicine
    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
  • 1992
TLDR
The most usual symptoms are Raynaud's phenomenon, swelling of the hands, polyarthritis, muscle weakness, oesophageal hypomotility and pulmonary disease.
Autoantibodies in the diagnosis of systemic rheumatic diseases.
TLDR
Several of the antigen-autoantibody systems found in systemic lupus erythematosus are discussed, addressing their clinical significance, common detection methods, immunogenetic associations, and the molecular and cellular biology of the cognate antigens.
Association of antibodies to ribonucleoprotein and Sm antigens with mixed connective-tissue disease, systematic lupus erythematosus and other rheumatic diseases.
TLDR
It is likely that the patient with hemagglutinating antibodies to ribonuclease-resistant extractable nuclear antigen has mixed connective-tissue disease, if the serum contains only ribonucleoprotein antibody in high titer.
The arthritis of mixed connective tissue disease.
TLDR
Radiologically small punched out bone erosions, asymmetrically distributed, were the most characteristic finding; other notable changes were aseptic necrosis, tuft erosion, and periarticular calcification.
Polymyositis, pulmonary fibrosis and autoantibodies to aminoacyl-tRNA synthetase enzymes.
TLDR
It seems unlikely that anti-aminoacyl-tRNA synthetase antibodies are directly responsible for causing disease, but they may provide an important clue to the aetiology of this unusual syndrome.
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