Genetic aspects of the pathogenesis of systemic lupus erythematosus in children
| Autor: | E. M. Kuchinskaya, E. N. Suspitsyn, M. M. Kostik |
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| Jazyk: | ruština |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Современная ревматология, Vol 14, Iss 1, Pp 101-107 (2020) |
| Druh dokumentu: | article |
| ISSN: | 1996-7012 2310-158X |
| DOI: | 10.14412/1996-7012-2020-1-101-107 |
| Popis: | The paper presents data on the pathogenesis of systemic lupus erythematosus (SLE), and depicts various molecular mechanisms for the development of SLE and lupus-like syndromes. It describes groups of diseases, such as apoptotic defects; NETosis; interferonopathies; complement deficiency; autotolerance disorders associated with mutations in the RAG1/RAG2 genes; hereditary metabolic diseases (prolidase deficiency, deficiency of adenosine deaminase 2; lysinuric protein intolerance; and α-mannosidase deficiency). The table summarizes clinical data on most of the known lupus-like syndromes and their molecular mechanisms.The pathogenesis of many forms of monogenic lupus-like diseases is being studied. The main sign suggesting in favor of the possible monogenic disease in a patient with SLE is its onset in infancy, especially in males. Attention should be also paid to a compromised family history, including to the marriage between close relatives, the resistance of disease to standard therapy, as well as atypical symptoms. |
| Databáze: | Directory of Open Access Journals |
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