Генетические аспекты патогенеза системной красной волчанки у детей

В статье приведены данные о патогенезе системной красной волчанки (СКВ), описаны различные молекулярные механизмы развития СКВ и волчаночноподобных синдромов. Описаны такие группы заболеваний, как дефекты апоптоза, нетоз, интерферонопатии, дефицит системы комплемента, нарушения системы аутотолерантности, связанные с мутациями в генах RAG1/RAG2, наследственные болезни обмена (дефицит пролидазы, дефицит аденозиндезаминазы 2-го типа, лизинурическая непереносимость белка, дефицит α-маннозидазы). В виде таблицы представлены обобщенные клинические данные о большинстве известных волчаночноподобных синдромов и их молекулярных механизмах.

Патогенез многих форм моногенных волчаночноподобных заболеваний находится в процессе изучения. Основным признаком, свидетельствующим в пользу возможного моногенного заболевания у больного СКВ, является его начало в раннем детском возрасте, особенно в сочетании с мужским полом. Также следует обращать внимание на отягощенный семейный анамнез, в том числе на факт близкородственного брака, устойчивость заболевания к стандартной терапии и нетипичную симптоматику. 

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