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Exophiala Dermatitidis in Primary Ciliary Dyskinesia-A Case Study

Author(s): Tereza Kopecka, Vendula Martinu, Petr Pohunek, Daniela Lzicarova, Eliska Bebrova, Oto Melter

This paper presents a teenage patient followed at Motol University Hospital. She has irreversible damage to the lung parenchyma due to primary ciliary dyskinesia. At the molecular level, there is a defect of the outer dynein arms, given by DNAH5 gene mutation. Repeated viral and bacterial infections of the respiratory tract led to progressive worsening of respiratory functions. In 2018, two severe exacerbations occurred, accompanied by an episode of allergic rash caused by antibiotics. The airways went colonized by the fungus Exophiala dermatitidis, which is known chiefly as a pathogen of the skin and brain in immunocompromised persons. In cystic fibrosis, colonization of the airways is quite usual, but in PCD, it is unique. Although the clinical condition has improved, colonization of the lower respiratory tract persists despite complex treatment, which is limited by inborn prolongation of the QT interval.

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