Open AccessPRIMARY CILIARY DYSKINESIA IMMOTILE CILIA SYNDROME
Author(s) -
Yulia A. Tsareva,
N. I. Zryachkin,
М. А. Кузнецова
Publication year - 2019
Publication title -
rossijskij pediatričeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2413-2918
pISSN - 1560-9561
DOI - 10.18821/1560-9561-2017-20-4-237-245
Subject(s) - primary ciliary dyskinesia , mucociliary clearance , cilium , medicine , motile cilium , situs inversus , respiratory tract , video microscopy , pathology , respiratory system , bronchiectasis , lung , biology , genetics , microbiology and biotechnology
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease characterized by recurrent respiratory tract infections, decreased fertility, and situs inversus in 50% of cases. The core of the syndrome is the disturbance of mucociliary clearance due to the lack or defect of cilia leading to their partial or complete immobility. There are some tests for diagnostic PCD with specific benefits and limitations, but there is still no diagnostic «gold standard» yet. Identification of nitric oxide and nasal clearance of dye or saccharin are widely used as screening tests. Clearance of 99Tc-labeled colloidal albumin, high-speed video microscopy and transmission electron microscopy, the cell culture study and genetic testing are methods for the verification. Late identification of PCD is reported worldwide. There are no methods to control the development of PCD complications. The important role is played by the long-term and constant follow up (including spirometry, evaluation of pulmonary clearance and X-ray scanning).