ОСОБЕННОСТИ КЛИНИЧЕСКОЙ КАРТИНЫ И ДИАГНОСТИКИ МУКОВИСЦИДОЗА
Аннотация
Муковисцидоз, или кистозный фиброз, — распространенное наследственное заболевание, обусловленное мутацией гена CFTR, ответственного за синтез, сохранение структуры и функции белка CFTR. Муковисцидоз проявляется, в первую очередь, патологией со стороны желудочно-кишечного тракта и дыхательной системы. Недостаток функции белка при данной патологии приводит к повышению вязкости секрета экзокринных желез, обтурации органов и нарушению их функций, как следствие возникают стеаторея, мальабсорбция, сахарный диабет, нарушение метаболизма, задержка физического развития и хронический бронхолегочный процесс. В данной статье будут рассмотрены основные аспекты особенностей клинического течения и диагностики данного заболевания.
Литература
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