primary ciliary dyskinesia 3

Primary ciliary dyskinesia 3 is a condition that affects the function of motile cilia, which are essential for clearing mucus and debris from the respiratory tract. It is caused by mutations in the DNAH5 gene, which disrupts the normal structure and function of cilia. Although exact prevalence estimates are not well established, the condition is recognized as an inherited disorder that typically presents in early life. The disease is inherited in an autosomal recessive pattern, meaning that an affected individual inherits mutated copies of the gene from both parents.

The clinical features of primary ciliary dyskinesia 3 include recurrent sinusitis, decreased nasal nitric oxide levels, and recurrent otitis media, all of which are consistently observed in affected individuals. Many patients also develop bronchiectasis as a progressive lung complication, and some may experience neonatal respiratory distress early in life. Additionally, a subset of individuals shows situs inversus totalis, where the major visceral organs are mirrored from their normal positions. Not all individuals experience every feature, and severity varies considerably between patients.

This condition is caused by mutations in the DNAH5 gene, which encodes a key component of the outer dynein arm essential for the proper movement of cilia. In primary ciliary dyskinesia 3, the altered protein interferes with the normal beating of cilia, leading to impaired mucus clearance and recurrent respiratory issues. It is inherited in an autosomal recessive pattern, which means that both parents must carry a mutation in the gene for their child to be affected. Families are encouraged to seek genetic counseling to understand recurrence risks and options for family planning.

Currently, management focuses on supportive care and symptom management since there are no treatments that are specifically approved for primary ciliary dyskinesia 3. Care is typically provided by a multidisciplinary team, which may include pulmonologists, otolaryngologists, and respiratory therapists to help manage respiratory symptoms and prevent complications such as bronchiectasis. Genetic counseling is recommended for affected families, and patients should discuss treatment options with their healthcare team to determine the most appropriate supportive strategies for their individual situations.

The outlook for primary ciliary dyskinesia 3 varies widely between individuals, with some patients experiencing relatively stable respiratory status while others may develop progressive lung complications over time. With current standards of care, many individuals can manage their symptoms effectively and maintain a good quality of life into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with the condition and to consider genetic counseling as part of ongoing management.