Трудности диагностики и терапии синдрома Блау: клиническое наблюдение ребенка раннего возраста с верифицированной мутацией в гене NOD2

Для цитирования:

Аннотация

Представлено клиническое наблюдение пациента раннего возраста с орфанным аутовоспалительным синдромом – синдромом Блау. Рассмотрены вопросы патогенеза, генетики, клинические симптомы, лабораторно-инструментальные характеристики, а также тактика ведения пациентов с данной патологией. Анализ представленного клинического наблюдения иллюстрирует трудности диагностики и терапии синдрома Блау.
Ключевые слова: синдром Блау, аутовоспалительные заболевания, генетика, дети.

Список литературы

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Для цитирования:Валиева С.И., Курбанова С.Х., Сологуб А.С., Газиев И.Р., Овсянников Д.Ю. Трудности диагностики и терапии синдрома Блау: клиническое наблюдение ребенка раннего возраста с верифицированной мутацией в гене NOD2. Клинический разбор в общей медицине. 2025; 6 (11): 27–33. DOI: 10.47407/kr2025.6.11.00707

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Клинический разбор в общей медицине