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
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
More From: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.