Our laboratory in the Department of General Pediatrics at the University Hospital Muenster performs studies to investigate the molecular basis of primary ciliary dyskinesia (PCD).
PCD is an autosomal recessive genetic disease that affects approximately 1 in 20,000 people. The cilia of the epithelium of the respiratory tract (lungs, bronchi, nasal mucosa) show an impaired motility. This results in an insufficient mucociliary clearance, causing severe recurrent infections of the lung, middle ear, and paranasal sinuses.
Approximately half of the patients Show situs inversus (a mirror-image position of the internal organs), which is caused by a randomization of left/right body asymmetry. The associated occurrence of PCD and situs inversus is also known as "Kartagener Syndrome". In the last 15 years, our group has contributed to understanding the molecular genetic causes of this disease in patients by demonstrating that changes in the genetic information (mutations) in certain genes (DNAH5, DNAH11, DNAI2, LRRC50, KTU, DNAAF3, CCDC11, CCDC39, CCDC40, CCDC103, CCDC151, CCDC164, HYDIN, DYX1C1, ARMC4, ZMYND10, SPAG1, C21ORF59, GAS8 and TTC25) are present in these patients.
We developed a new diagnostic tool for PCD based on immunofluorescence microscopy procedures that is minimally invasive for the patient.
The diagnosis of PCD is possible in only a few centers worldwide. We offer a unique (the most comprehensive) PCD diagnostic in Europe that meets all methods approved by the European Respiratory Society:
- Cilia beat frequency and analysis by high-resolution video microscopy
- Immunofluorescence Microscopy
- Electron Microscopy
- Genetic Analysis
If you are an attending physician or a patient, you can find more information on disease, diagnostics, and our genetic study in the following links:
- General information about the disease, diagnosis and therapy: Information PCD
- Link to the HVMA "general information and overview" page: HVMA information
- Information and documents for immunofluorescence diagnosis (brush biopsy): Immunofluorescence diagnosis
- Information concerning our genetic study: Genetic of PCD
- Center for Ambulatory care (Pneumology) Clinic of General Pediatrics at the University Hospital Münster: Ambulatory care (German language)