Первичная цилиарная дискинезия: обзор проекта клинических рекомендаций 2022 года

Первичная цилиарная дискинезия (ПЦД) – редкое наследственное заболевание из группы цилиопатий, основу которого составляет дефект ультраструктуры ресничек эпителия респираторного тракта и аналогичных им структур (жгутики сперматозоидов, ворсины фаллопиевых труб, эпендимы желудочков и др.), приводящий к нарушению их двигательной функции. Распространенность заболевания значительно различается во всем мире, в Российской Федерации она достоверно неизвестна.

Целью обзора явился анализ данных литературы о современных подходах к диагностике и лечению ПЦД.

Методология. Использовались данные 90 статей и экспертное мнение специалистов, оказывающих помощь пациентам с ПЦД.

Результаты. Классические проявления ПЦД зависят от возраста. Ведущими проявлениями болезни у пациентов с ПЦД являются рецидивирующие воспалительные заболевания верхних и нижних дыхательных путей (бронхиты, пневмонии) с формированием бронхоэктазов (БЭ), поражение ЛОР-органов (хронический ринит, риносинусит, полипоз носа, повторные отиты, прогредиентное снижение слуха). В настоящее время нет единого метода – «золотого стандарта» – диагностики ПЦД. Диагноз ПЦД устанавливается на основании характерной клинической картины в сочетании с результатами специальных исследований (определение оксида азота в выдыхаемом воздухе, ДНК-диагностика, высокоскоростная видеомикроскопия, трансмиссионная электронная микроскопия). Подходы к генетической диагностике недостаточно разработаны в мировой практике и отсутствуют в нашей стране. Подход к терапии пациента с ПЦД должен быть мультидисциплинарным в связи с полиорганностью поражений. Согласно Европейскому консенсусу, целью терапии ПЦД является восстановление или поддержание нормальной функции легких. Рандомизированных исследований лечения ПЦД не проводилось, следовательно, все рекомендации по лечению основаны на доказательствах очень низкого уровня или экстраполированы из руководств по муковисцидозу. Даны рекомендации по муколитической, антибактериальной и противовоспалительной терапии ПЦД с учетом мирового и отечественного опыта.

Заключение. Разработка нового варианта клинических рекомендаций, содержащих современную актуальную информацию, позволит усовершенствовать диагностику и лечение ПЦД в Российской Федерации.

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