An Innovative Team Arrives In Puerto Rico To Diagnose Primary Ciliary Dyskinesia

This is the first team, not only in Puerto Rico, but in the entire Caribbean.

Dr. Wilfredo De Jesús Rojas, pediatric infectious disease specialist at the Institute of Pediatric Asthma and Rare Lung Diseases at the Hospital Menonita Cayey Medical Center.

The specialist in pulmonology and pediatrics, Dr. Wilfredo De Jesús Rojas, has given the good news that an innovative team has arrived in Puerto Rico that will allow a more precise diagnosis of Primary Ciliary Dyskinesia (PCD).

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PCD is a disease that affects between 1/15,000 and 1/30,000 live births, approximately. In most cases, it is acquired by autosomal recessive inheritance, which is characterized by a spectrum of defects in ciliary function.

In fact, it receives the name of primary, s ince it is born with it, it is congenital, genetic, unlike the secondary one that can be acquired through a virus that affects the cilia. This disease can be suffered by “both children and adults of all ages”, as indicated by the specialist De Jesús Rojas.

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The equipment allows the measurement of the level of nasal nitric oxide (nNO), a very useful additional tool for the diagnosis of PCD. Photo: PCD Puerto Rico

The cilia are cellular structures that allow the movement of fluids, as well as filter dust and other particles that enter the nose through the air that is breathed.

This deterioration of ciliary function brings with it a series of symptoms experienced by up to 75% of the affected population; These symptoms include chronic nasal congestion, chronic sinusitis, recurrent otitis media, recurrent productive cough, and frequent pneumonia or bronchitis, as well as respiratory distress, according to Dr. De Jesús Rojas.

Unfortunately, many patients receive the diagnosis in adult life due to lack of knowledge or equipment and are often diagnosed with asthma; however, thanks to the PCD Foundation it is now possible to have an additional tool to better approach this disease, since, until now, this equipment, called Chemiluminescence NO Analyzer – Eco Physics CLD 88sp, was only owned by centers of prestigious universities in the United States.

However, not all people have the possibility of reaching the United States to receive an accurate diagnosis, so they live with the disease, while their lungs are affected and generating scars. It is noteworthy that this new equipment was subsidized as part of a research study thanks to the Catalyzer Research Grant, from the Puerto Rico Science Technology & Research Trust.

By means of the aforementioned apparatus, a measurement of the level of nasal nitric oxide (nNO) can be made to corroborate the concentration and continue with other tests that facilitate the diagnosis.

Dr. Wilfredo De Jesús Rojas recommends that, given the suspicion of the presence of this disease, the test be carried out in pediatric ages, in order to prevent damage to the lungs.

This team that the PCD Foundation managed to bring to Puerto Rico, is not only the first on the island, but in the entire Caribbean, which means hope for all patients with this condition and the best thing is that they will start testing early February, according to the specialist.

With this technology available to Puerto Rican patients, it is expected to contribute to the early diagnosis of primary ciliary dyskinesia, which, in turn, translates into a better prognosis and quality of life.

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