Primary Ciliary Dyskinesia (PCD) in Puerto Rico: Diagnosis and Management at the Primary Level

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the function of the mobile cilia in the respiratory tract. These cilia, which normally help clear the airways of secretions and particles, do not work properly in patients with PCD. This leads to chronic respiratory infections and complications in other systems of the body. Many times, PCD can be confused with bronchial asthma.

Early diagnosis of PCD is critical for initiating timely treatment and preventing irreversible lung damage. Teamwork between the primary care physicians and specialists is essential for optimizing patient outcomes. For this reason, pediatric pulmonologist Dr. Wilfredo De Jesús is sharing valuable information regarding the diagnosis and management of PCD at the primary level.

The RSPH4A founder mutation in Puerto Rico

In the Puerto Rican population, studies have identified a specific founder mutation in the RSPH4A, c.921 + 3_921 + 6delAAGT gene as a common cause of PCD. This mutation affects the structures of the cilia, which disrupts the normal beating pattern of the cilia and produces a circular motion instead of the effective beating needed to clear the airways.

Unlike other types of PCD, patients with this mutation do not usually present situs inversus or dextrocardia. It has been observed that patients with this mutation tend to develop severe respiratory symptoms and Pseudomonas aeruginosa infections.

What symptoms should be identified for a possible diagnosis of PCD?

Key symptoms that should alert doctors include:

• Persistent productive coughing from birth or the first months of life
• Chronic rhinitis from infancy
• Recurring sinus infections
• Chronic otitis media with otorrhea (middle ear infections)
• Bronchiectasis (damage to the airways) over time
• Situs inversus (present in only half of patients, and not common in Puerto Ricans)

If you identify these symptoms in your patient, the following tests are recommended before referring to a specialist:

Once the patient is referred to the PCD Center, the PCD expert may order the following tests to support the diagnosis:

• Nasal Nitric Oxide Measurement (nNO): nNO levels are typically very low in patients with PCD. This test is non-invasive, and may suggest PCD if levels are below 77 nL/min.
• Genetic Testing: Identifying variants in the genes responsible for PCD is critical for a definitive diagnosis. The RSPH4A founder mutation should be considered for Puerto Rican patients.
• High-Velocity Video Microscopy (HSVA): Used to analyze ciliary motion and evaluate its function.
• Transmission Electron Microscopy (TEM): Allows structural defects of cilia to be visualized.

Key elements of interdisciplinary management of PCD

Managing PCD requires a multidisciplinary approach that may include pulmonologists, otolaryngologists, and other specialists. Some key recommendations include:

Complications associated with PCD

PCD can lead to serious respiratory complications, such as bronchiectasis, chronic sinusitis, and recurring infections which, if not managed properly, can significantly deteriorate the patient’s quality of life, increasing the chance of needing a transplant in adulthood.

Where can you refer a patient with suspected PCD?

It’s essential for a patient with suspected PCD, whether a child or adult, to be evaluated at a center that specializes in this condition. In Puerto Rico, the PCD Center at the Asthma and Rare Lung Disease Institute has the necessary experience and tools to confirm the diagnosis and offer the appropriate treatment.

This center is accredited for the management of PCD, and also has the CILIA4PR research laboratory, managed by Dr. Wilfredo De Jesús Rojas, a physician-researcher at Ponce Health Sciences University and the Ponce Research Institute. He is also the Director of the PCD Center of Puerto Rico.

Remember! Patient-centered interdisciplinary care is the best strategy to achieve a better response to treatment, and consequently, a better quality of life for patients with PCD. Consider these recommendations, and stay tuned for MCS Conexión de Salud’s communications to keep your practice up to date.

Contact

Wilfredo De Jesús Rojas, MD, FAAP, MSc, ATSF

Accredited Center for Primary Ciliary Dyskinesia in Puerto Rico

Fundación PCD Puerto Rico, Inc.

Cayey, Puerto Rico

Tel. 939-271-9422, 939-290-9422

Email: fundacionPCDpuertorico@gmail.com

Facebook: @PCDPuertoRico

References

1. De Jesús-Rojas W, Reyes-De Jesús D, Mosquera RA. Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation. Diagnostics (Basel). 2021 Feb 11;11(2):281. doi: 10.3390/diagnostics11020281. PMID: 33670432; PMCID: PMC7918725.
2. De Jesús-Rojas W, Shapiro AJ, Shoemark A. Respiratory Aspects of Primary Ciliary Dyskinesia. Clin Chest Med. 2024 Sep;45(3):717-728. doi: 10.1016/j.ccm.2024.02.020. Epub 2024 Mar 28. PMID: 39069333.
3. De Jesús-Rojas W, Demetriou ZJ, Muñiz-Hernández J, Rosario-Ortiz G, Quiñones FM, Ramos-Benitez MJ, Mosquera RA. Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis. Cells. 2024 Mar 24;13(7):567. doi: 10.3390/cells13070567. PMID: 38607006; PMCID: PMC11011699.
4. De Jesús-Rojas W, Meléndez-Montañez J, Muñiz-Hernández J, Marra-Nazario A, Alvarado-Huerta F, Santos-López A, Ramos-Benitez MJ, Mosquera RA. The RSPH4A Gene in Primary Ciliary Dyskinesia. Int J Mol Sci. 2023 Jan 18;24(3):1936. doi: 10.3390/ijms24031936. PMID: 36768259; PMCID: PMC9915723.
5. De Jesús-Rojas W, Muñiz-Hernández J, Alvarado-Huerta F, Meléndez-Montañez JM, Santos-López AJ, Mosquera RA. The Genetics of Primary Ciliary Dyskinesia in Puerto Rico. Diagnostics (Basel). 2022 May 2;12(5):1127. doi: 10.3390/diagnostics12051127. PMID: 35626283; PMCID: PMC9139572.