Abstract
Primary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients. The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity. The article describes clinical observation of a patient – carrier of a rare mutation and describes the features of this case.Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported.
Highlights
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia
Primary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients
The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity
Summary
Редкая мутация гена CCNO у пациента с первичной цилиарной дискинезией. На обзорной рентгенограмме органов грудной клетке имелись признаки перенесенных оперативных вмешательств, легочный рисунок деформирован, огрублен, правый корень расширен, уплотнен, Тень сердца смещена влево, дуга по левому контуру сглажена, верхушка за куполом диафрагмы, купол диафрагмы четкий, синус слева – запаян
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