Ciliar Function Evaluation

The service aims to diagnose ciliopathies that affect ciliary motility such as the rare disease - Primary Ciliary Dyskinesia (PCD).

 

This disease affects 1 in 10,000 people and is characterized by being, in most cases, an autosomal recessive genetic disease. PCD affects motile cilia present in the human body.

Motile cilia are hair-like protrusions that come out of some cells in our body. The most affected organs are those of the respiratory system, then those of the reproductive system and, less commonly, it can affect the motile cilia that line the brain's ventricles.

The most common symptoms are respiratory problems soon after birth. In children, runny nose, productive cough and recurrent ear infections are common. In adults, sinusitis and bronchiectasis are also observed. In adults, subfertility or even infertility can be detected. More rarely, hydrocephalus can be detected at birth. About half of patients with PCD have Kartagener syndrome, characterized by the association of sinusitis, bronchiectasis and situs inversus, that is, the position of the internal organs is inverted, namely the heart may be on the right side. This inversion of the location of the internal organs is due to the malfunction of a small ciliated organ during embryonic development during the first weeks of gestation.

Know more about DCP.

SERVICE OBJECTIVES:

Evaluate the function of motile cilia by brushing the nasal epithelium.
We use 3 different techniques so that the diagnosis is multidisciplinary and robust:

  • 1) High-speed videomicroscopy to assess: ciliary beat frequency + ciliary beat pattern
  • 2) Immunofluorescence (IF) to identify if the proteins that make up the motile ciliary structure are present or absent.
  • 3) Transmission electron microscopy to assess the ciliary ultrastructure.

Ciliar Methods (1)-1

The ciliary evaluation must be prescribed by the attending specialist physician. Pulmonology, otolaryngology and cardiology services are aware of PCD.

Monday to Friday 9:30-13:00 and 14:00-17:00

Phone: +351 218803110

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NOVA Medical School | Faculdade de Ciências Médicas Universidade Nova de Lisboa
Serviço de avaliação ciliar
Rua do Instituto Bacteriológico no5, 5-A e 5-B 1150-190 Lisboa
Portugal

Ideally, patients must be free of respiratory infections when performing the diagnostic tests for PCD

Coordinator

Susana Santos Lopes

Team

Ana de Oliveira Valadas
Sara Pestana
PhD student
Sarah Dias
Superior Technician