primary ciliary dyskinesia 2

Primary ciliary dyskinesia 2 is a condition that affects the structure and function of cilia, the tiny hair-like structures that help clear mucus and debris from the respiratory tract. It is caused by pathogenic variants in the DNAAF3 gene. This condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the altered gene to be affected. Because precise prevalence estimates are not available, the condition is considered to be rare.

The clinical presentation for primary ciliary dyskinesia 2 can vary considerably between affected individuals. A subset of patients may experience hearing impairment, noted in approximately 5% to 29% of cases, which can be one of the features leading to clinical evaluation. It is important to recognize that not all individuals experience all features, and severity varies widely between cases, with some symptoms evolving over time as ciliary dysfunction impacts various systems.

Primary ciliary dyskinesia 2 is caused by alterations in the DNAAF3 gene, which plays a crucial role in the assembly and function of cilia. The resulting dysfunctional cilia lead to impaired mucociliary clearance and can affect various organ systems. This condition is inherited in an autosomal recessive pattern, meaning that both parents typically carry one copy of the pathogenic variant, and each child has a 25% chance of being affected. Genetic counseling is recommended for families to discuss inheritance patterns and planning.

Currently, management of primary ciliary dyskinesia 2 focuses on supportive care and symptom management, as there are no approved treatments specifically linked to this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include respiratory specialists and other healthcare professionals focused on managing complications. Genetic counseling is recommended to help families understand the condition and discuss individual treatment options with their healthcare team.

The outlook for individuals with primary ciliary dyskinesia 2 is variable. Outcomes vary depending on symptom severity, age of diagnosis, and access to specialized care, and modern support strategies have contributed to improved quality of life. Severity and symptoms vary widely between individuals, 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 consider genetic counseling for further guidance on managing long-term care.