In the human body, ciliated epithelial cells are normally seen in the large airways and its contiguous structures including paranasal sinuses and the middle ear. They are also found lining the fallopian tubes, ependymal lining of brain and the tails of spermatozoa. In the airways, the cilia which number around 200 per individual cell, beat in a synchronised pattern bringing up secretions carrying entrapped dust and bacteria to the hypopharynx.
Primary ciliary dyskinesia (PCD) or Immotile cilia syndrome (ICS) is a rare autosomal recessive disease with extensive genetic heterogeneity characterised by abnormal ciliary motion and impaired mucociliary clearance. The disease manifests as recurrent or persistent respiratory infections, sinusitis, otitis media and male infertility. Around 50% of the patients have situs inversus. Without proper medical attention, these patients can develop end stage lung disease at an early age and may require a transplant. Until recently, there were no reliable screening tests and diagnosis required either Electron Microscopy or molecular studies.
High speed video microscopy (HSVM) analysis of nasal ciliary brushing is a screening test where brushing of live nasal epithelial cells are studied documenting the presence and pattern of ciliary motility. The movement of the cilia are captured at 200 frames per second and the pattern of movement assessed at a playback speed of 30 fps. Patients with abnormal pattern of movement are tested again after an interval of 4 weeks to exclude secondary dyskinesia due to infection. This test is currently being done only in select countries with the US, UK and Germany being pioneers.
For the very first time in India, G. Kuppuswamy Naidu Memorial Hospital has started offering HSVM to patients who are suspected to have PCD. Dr. Antony Terance, Consultant Paedatric Pulmonologist and Dr. Ram Ganesh, Consultant Pathologist have been involved in the introduction of this test, after having visited the Southampton University Hospital, NHS, UK where they observed and learned from the PCD diagnostic team led by Prof. Jane Lucas who is also the chair of the European PCD task force. This PCD team is also in the process of initiating testing for nasal nitric oxide (NO) which is usually found to be low in these patients.
Dr Ramganesh and Dr Balan are working to introduce Transmission electron Microscopy , a confirmatory test for Primary ciliary Dyskinesia. An agreement has also been reached with the Tamil Nadu Agricultural University to use the TEM (transmission electron microscope) at their facility for confirmation of ultra structural defects within the cilia. We also have a multidisciplinary paediatric respiratory team to manage patients with condition.
At present, there is no cure for this disease and preventing or delaying lung damage is the only hope for these patients. National PCD centre, Southampton, UK is collaborating with us to establish the PCD facility at GKNM hospital. We are pioneers is this field and working to become the PCD centre of excellence in South India.