Search

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.

The article considersthe etiological factors, clinical manifestations and diagnostic signs of the alveolar hemorrhagic syndrome, which is rare in the pediatric clinical practice, using the example of the group of the patients with orphan lung pathological condition observed in the Pulmonology Clinic of the Institute. The prevailing number of the patients consists of the children with the rare disease; that is the idiopathic pulmonary hemosiderosis. That is why the clinical manifestations of the alveolar hemorrhagic syndrome in the presence of this pathological condition are discussed, the algorithm of the diagnostic measures and the long-term observation results (including the disease outcomes) for the children received the different variants of the immunosuppressive therapy are presented.