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1/2017
vol. 92 abstract:
Case report
Primary ciliary dyskinesia - a case report and presentation of new diagnostic modalities and current recommendations of clinical care
Magdalena Solka
,
Katarzyna Grzela
,
Anna Sulikowska-Rowińska
,
Marta Krawiec
PEDIATRIA POLSKA 92 (2017) 105-110
Online publish date: 2018/03/07
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Primary ciliary dyskinesia (PCD) presents a diagnostic challenge. Coexistence of multiorgan abnormalities may facilitate the diagnosis. In this article, we present a case of a patient with a complex congenital heart disease and recurrent severe lower respiratory tract infections, in whom further diagnostics confirmed PCD with CCDC39 gene mutation. In recent years, genetic testing for PCD forms a valuable completion of the ciliary biopsy with electron microscopy. Once diagnosis of PCD is established, proper clinical care will have to be rendered to reduce the complications of the disease. In this article, the current recommendations for patient's clinical visits' regimen, laboratory testing and suggested prophylactic methods are presented.
keywords:
CCDC39 gene, Complex congenital heart disease, Bacterial bronchitis |
POLSKI
