ciliary dyskinesia, primary, 53

Primary ciliary dyskinesia, type 53 is a complex condition that impacts multiple organ systems, including the respiratory, cardiovascular, and central nervous systems. Pathogenic variants in the CLXN gene play a key role in disrupting the function of cilia, which are essential for proper mucus clearance and organ positioning. The condition is inherited in an autosomal recessive manner, meaning that an affected individual has received two altered copies of the gene. While precise prevalence estimates are not well established, the clinical presentation can vary significantly from person to person. Early recognition and a comprehensive evaluation are important for managing the various symptoms associated with the condition.

Individuals with primary ciliary dyskinesia, type 53 may experience a broad range of symptoms that reflect its multisystem involvement. Neurologically, abnormalities such as cerebellar vermis hypoplasia and a dilated fourth ventricle can be observed. Cardiovascular features are prominent and include structural anomalies such as cardiomegaly, a common atrium, a perimembranous ventricular septal defect, a right aortic arch, persistent left superior vena cava, and a patent foramen ovale, sometimes accompanied by pulmonary arterial hypertension. Abdominal findings may include situs inversus configurations—both totalis and abdominal—as well as splenic abnormalities like a hypoplastic spleen and polysplenia, in addition to ductus venosus agenesis. Respiratory symptoms are also common, with patients experiencing respiratory insufficiency, chronic sinusitis, and recurrent pneumonia. Not all individuals experience every feature, and severity varies considerably.

Primary ciliary dyskinesia, type 53 is associated with pathogenic variants in the CLXN gene. This gene is important for the structure and function of cilia, the microscopic hair-like structures that help clear mucus and maintain proper organ arrangement during development. The condition is inherited in an autosomal recessive pattern, which means that an individual must receive one mutated copy from each parent to be affected. Because symptoms can vary greatly among those with the condition, even within the same family, genetic counseling is recommended to help families understand the inheritance pattern and discuss testing options.

Currently, management of primary ciliary dyskinesia, type 53 focuses on supportive care and symptom management, as there are no specific treatments approved for addressing the underlying genetic cause. A multidisciplinary approach is essential given the multisystem involvement, with specialists in pulmonology, cardiology, and neurology often playing key roles in patient care. Regular surveillance is an essential part of long-term management, as routine monitoring helps detect emerging complications in the respiratory, cardiovascular, and neurological systems. Treatment is tailored to address issues such as chronic sinusitis, respiratory insufficiency, and cardiac anomalies, and genetic counseling is recommended to provide guidance on inheritance and family planning. Patients should discuss treatment options with their healthcare team to determine the most appropriate strategy for their individual situation.

The course of primary ciliary dyskinesia, type 53 is highly variable, with affected individuals experiencing a wide range of outcomes. With current standards of care, many individuals can manage their symptoms effectively into adulthood, though the condition may progress, stabilize, or show a variable course over time. Outcomes described in medical literature continue to evolve as standards of care improve, and advances in supportive management have contributed to a better quality of life for many patients. That severity and symptoms vary widely between individuals, and families are encouraged to connect with specialists who are familiar with this condition for ongoing monitoring and support.