Метаболитни кризи при вродени грешки на обмяната – алгоритми на спешност

Резюме

Вродените грешки на oбмяната са хетерогенна група заболявания, при които в следствие на ензимен (кофакторен) дефект или дефицит е нарушено разграждането, съхранението или транспорта на различни макромолекули, участващи в метаболитните процеси. Неспецифичната клинична картина и фактът, че тези заболявания са редки, са предпоставка те да бъдат пренебрегвани в диференциалната диагноза на спешните състояния.

Най-често, при дебют на заболяването, пациентите с метаболитни кризи постъпват в тежко увредено общо състояние, което налага стабилизирането им, а към поставяне на точна генетична диагноза се преминава на следващ етап. Основно вродените грешки на обмяната се разделят на три типа – интоксикационен, нарушения на енергийния метаболизъм и такива с натрупване на макромолекули в клетките. Метаболитните кризи са характерни за първия и втория тип. Клиниката при дебют на заболяването се припокрива с други, чести за детската възраст състояния, с които се срещаме ежедневно. При снемане на детайлна анамнеза от родителите и след подробен преглед се разкрива информация, която насочва към обменно заболяване. Съществуват различни протоколи за лечение на метаболитни кризи, които обединяват специфичното и неспецифичното лечение на тези състояния. Общите стъпки са насочени към стабилизирането на хемодинамиката на пациента, а специфичните са базирани на конкретното метаболитно нарушение.

Не бива да пропускаме метаболитните кризи като диференциална диагноза на остро влошаващо се дете. Навременното започване на лечение минимализира последиците от заболяването и риска от следващи екзацербации.

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