ciliary dyskinesia, primary, 49, without situs inversus

Ciliary dyskinesia, primary, 49, without situs inversus is a condition affecting the function of motile cilia that play critical roles in the respiratory tract and in sperm motility. Abnormalities in the structure and movement of cilia lead to chronic respiratory issues and male infertility, with hallmark features including chronic cough, recurrent sinusitis, and bronchiectasis, as well as abnormal sperm structure such as short and coiled flagella. Genetic studies have identified pathogenic variants in the CFAP74 gene as contributory, and the condition is inherited in an autosomal recessive manner. As specific prevalence data is not available, the condition is considered to occur in an undefined, uncommon pattern in the population.

Individuals with this condition typically present with features that reflect impaired ciliary function. Respiratory symptoms are prominent and include a persistent, chronic cough, recurrent sinusitis, recurrent respiratory infections, and bronchiectasis, which result from impaired mucus clearance. In affected males, infertility is common due to abnormal sperm flagella, which are described as being both short and coiled. Not all individuals experience all of these features, and severity varies considerably.

The underlying cause of this condition involves pathogenic variants in the CFAP74 gene, which is believed to play a role in the proper formation and function of motile cilia. The disease follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the altered gene, one from each parent. This also implies that parents who are carriers have an increased chance of having another affected child, though many carriers remain asymptomatic. Genetic counseling is recommended for families to understand these risks and discuss future planning.

Currently, management focuses on supportive care and symptom management, with treatment plans tailored to the needs of the individual. Although no treatments are specifically approved for this condition, a multidisciplinary approach is key, involving respiratory specialists and other relevant experts to provide regular surveillance and monitoring of lung function and other complications. In addition to addressing active respiratory infections, long-term management involves routine evaluation and interventions to maintain airway health. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to help guide families through available care options.

The course of ciliary dyskinesia, primary, 49, without situs inversus is highly variable, with outcomes depending on factors such as the severity of respiratory complications and the timeliness of supportive care. With current standards of care that emphasize symptomatic management and regular surveillance, many individuals are able to maintain a good quality of life into adulthood. That 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 to receive guidance and support.