Кардиоваскулярная терапия и профилактика (Dec 2008)

Non-differentiated connective tissue dysplasia. "Carthage should be destroyed"?

  • E. V. Zemtsovsky

Journal volume & issue
Vol. 7, no. 6
pp. 73 – 78

Abstract

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In the last two decades, the interest in hereditary pathology of connective tissue structure and function has substantially increased in Russia. It is mostly explained by a new concept of "non-differentiated connective tissue dysplasia" (NDCTD). It has been proposed to diagnose NDCTD based on the simplified analysis of quantity and/or quality of external and visceral dysplasia symptoms. Such an approach resulted in manifold publications demonstrating NDCTD role in internal disease clinical status and clinical course. At the same time, due to the absence of clear definitions and diagnostic algorithms, this group includes some separate syndromes and phenotypes (MASS-like phenotype, mitral valve prolapse, joint hypermobility syndrome, etc.). The latter complicates literature data analysis and further development of CTD concept. Limitations of this concept are discussed in detail, and NDCTD is proposed to be diagnosed only in the absence of external and visceral symptoms of already known and described dysplastic syndromes and phenotypes.

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