ciliary dyskinesia, primary, 54

Ciliary dyskinesia, primary, 54 is a condition that primarily affects the function of microscopic hair-like structures called cilia, which are essential for clearing mucus from the airways and proper sperm motility. The genetic basis of this condition is a mutation in the CFAP54 gene, which disrupts the normal structure and function of cilia. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene to be affected. While precise prevalence estimates are not available, the condition is recognized based on its characteristic respiratory and reproductive manifestations.

Individuals with CFAP54-related primary ciliary dyskinesia typically experience chronic respiratory issues and infertility-related findings. Characteristic clinical features include bronchiectasis, pneumonia, recurrent bronchitis, and a productive cough, all of which are consistently reported. In addition, there are notable reproductive issues, as evidenced by the presence of short sperm flagella, abnormal sperm axoneme morphology, and absent sperm flagella. Not all individuals experience every feature, and severity varies considerably.

The condition is caused by mutations in the CFAP54 gene, which plays an important role in the formation and function of cilia. In individuals affected by this condition, the disrupted function of cilia leads to impaired clearance of mucus from the lungs and defects in sperm motility. CFAP54-related primary ciliary dyskinesia is inherited in an autosomal recessive pattern, meaning that both parents typically carry one copy of the mutated gene, and each child has a 25% chance of being affected. Genetic counseling is recommended for families to understand recurrence risks and options for future family planning.

Currently, management focuses on supportive care and symptom management, as there are no FDA-approved treatments specifically linked to CFAP54-related primary ciliary dyskinesia. Treatment is tailored to the individual, often involving a multidisciplinary team that may include respiratory specialists and fertility experts. Approaches to care include airway clearance techniques, management of infections, and other supportive interventions to alleviate respiratory symptoms. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to assist with family planning and understanding the condition.

The outlook for individuals with CFAP54-related primary ciliary dyskinesia varies, with the condition manifesting as a lifelong challenge primarily affecting respiratory function and reproductive health. Severity and symptoms vary widely between individuals, and outcomes depend on several factors including symptom management and access to specialized care. With current standards of care, many individuals can manage their symptoms into adulthood, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling for additional guidance and support.