<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Primary ciliary dyskinesia (PCD) is a congenital disorder with genetic determinism, characterized by chronic infections of the upper and lower respiratory tract. The triad of situs inversus, chronic sinusitis and bronchiectasis is called Kartagener Syndrome. PCD is a predominantly autosomal recessive disease, involving more than 40 mutations of genes. Abnormal cilia movement leads to defective mucociliary clearance resulting in chronic cough, nasal congestion, recurrent otitis, chronic sinusitis, male infertility and other rare conditions. First presented case is one of a 17-year-old girl with chronic treatment for asthma for the last 5 years. Respiratory functional tests were performed: the patient didn’t present variable airflow obstruction. The diagnosis of PCD was suspected because of chronic respiratory infections in a situs-inversus patient. The second case is a 4-year-old patient with a clinical history highly suggestive of ciliary dyskinesia, who received a recommendation for genetic testing to confirm the diagnosis. The third case is an 8-year-old boy with wet cough from neonatal period, bronchiectasis and sinusitis. Both his symptoms and the fact that his adult brother presented situs inversus, chronic sinusitis and bronchiectasis led us to raise suspicion of PCD. These case reports aim to highlight the real-life difficulties in a rather low-resource setting in diagnosing PCD, a genetic syndrome with long term impact on airways. The second objective was outlining the clinical manifestations that are highly suggestive of PCD and also to develop a diagnostic algorithm for a real-life scenario involving a pulmonologist with reduced access to high-performance tools like TEM (transmission electron microscopy) and complex genetic tests. Because not all PCD cases have known genetic mutations and some don’t have ultrastructural abnormalities we could still rely on the old saccharin test in order to select patients that are candidates for nasal NO. A high index of suspicion for PCD should be present in any patient with non-cystic fibrosis bronchiectasis patient. PCD remains a rare and underdiagnosed genetic syndrome in real-life paediatric setting in countries with limited neonatal screening programs. Increasing awareness of this condition and accessible diagnostic tools are desirable in order to find patients with high-likelihood of PCD and to refer these selected patients to specialized centres. Authors provide an age-dependent approach of PCD patients in a low resource setting.</p>
</abstract>

Primary ciliary dyskinesia (PCD) is a congenital disorder with genetic determinism, characterized by chronic infections of the upper and lower respiratory tract. The triad of situs inversus, chronic sinusitis and bronchiectasis is called Kartagener Syndrome. PCD is a predominantly autosomal recessive disease, involving more than 40 mutations of genes. Abnormal cilia movement leads to defective mucociliary clearance resulting in chronic cough, nasal congestion, recurrent otitis, chronic sinusitis, male infertility and other rare conditions. First presented case is one of a 17-year-old girl with chronic treatment for asthma for the last 5 years. Respiratory functional tests were performed: the patient didn’t present variable airflow obstruction. The diagnosis of PCD was suspected because of chronic respiratory infections in a situs-inversus patient. The second case is a 4-year-old patient with a clinical history highly suggestive of ciliary dyskinesia, who received a recommendation for genetic testing to confirm the diagnosis. The third case is an 8-year-old boy with wet cough from neonatal period, bronchiectasis and sinusitis. Both his symptoms and the fact that his adult brother presented situs inversus, chronic sinusitis and bronchiectasis led us to raise suspicion of PCD. These case reports aim to highlight the real-life difficulties in a rather low-resource setting in diagnosing PCD, a genetic syndrome with long term impact on airways. The second objective was outlining the clinical manifestations that are highly suggestive of PCD and also to develop a diagnostic algorithm for a real-life scenario involving a pulmonologist with reduced access to high-performance tools like TEM (transmission electron microscopy) and complex genetic tests. Because not all PCD cases have known genetic mutations and some don’t have ultrastructural abnormalities we could still rely on the old saccharin test in order to select patients that are candidates for nasal NO. A high index of suspicion for PCD should be present in any patient with non-cystic fibrosis bronchiectasis patient. PCD remains a rare and underdiagnosed genetic syndrome in real-life paediatric setting in countries with limited neonatal screening programs. Increasing awareness of this condition and accessible diagnostic tools are desirable in order to find patients with high-likelihood of PCD and to refer these selected patients to specialized centres. Authors provide an age-dependent approach of PCD patients in a low resource setting.

Primary ciliary dyskinesia diagnosis management in low-resource setting, a practical approach

Pneumologia

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Managementul diagnosticului dischineziei primare de cili în condițiile unor resurse reduse, o abordare practică

Primary ciliary dyskinesia (PCD) is a congenital disorder with genetic determinism, characterized by chronic infections of the upper and lower respiratory...

Primary ciliary dyskinesia diagnosis management in low-resource setting, a practical approach

Article Category: Case Report

Publicado en línea: 02 may 2024

Páginas: 122 - 130

DOI: https://doi.org/10.2478/pneum-2023-0034

Palabras clave
Primary ciliary dyskinesia, Kartagener syndrome, situs inversus, saccharin test, ciliopathy

© 2022 Andreea Dumitroae et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Primary ciliary dyskinesia diagnosis management in low-resource setting, a practical approach

Article Category: Case Report

Publicado en línea: 02 may 2024

Páginas: 122 - 130

DOI: https://doi.org/10.2478/pneum-2023-0034

Palabras clavePrimary ciliary dyskinesia, Kartagener syndrome, situs inversus, saccharin test, ciliopathy

© 2022 Andreea Dumitroae et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
Primary ciliary dyskinesia, Kartagener syndrome, situs inversus, saccharin test, ciliopathy