A rare variant of primary ciliary dyskinesia in combination with hereditary hemorrhagic telangiectasia type 1: a case from practice

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disease belonging to the group of ciliopathies. The disease develops because a defect in the ultrastructure of the epithelial cilia in the respiratory tract and similar structures (sperm flagella, villi of the fallopian tubes, ventricular ependyma, etc.) disturbs their motor function. Currently, various clinical and genetic variants of the disease are distinguished, increasing the effectiveness of dynamic examination and treatment.Aim. In this article, we describe a patient with a rare variant of PCD that we identified in combination with a mutation in the ENG gene responsible for the development of hereditary hemorrhagic telangiectasia type 1 (HHT-1). HHT-1 is a rare hereditary disease that manifests as various vascular dysplasias, including arteriovenous malformations (AVM) in the lungs, which can significantly worsen the course of the disease and be a predictor of an unfavorable outcome.Conclusion. The presented case demonstrates a combination of two rare genetic diseases in a child. The uniqueness of the case also lies in the fact that the identified rare mutation in the DRC1 gene responsible for the development of PCD is not associated with a loss of motility of the cilia of the ciliated epithelium, which makes the testing and the correct diagnosis even more difficult.