ciliary dyskinesia, primary, 42

Ciliary dyskinesia, primary, 42 is a disorder affecting the respiratory system, where the impaired function of cilia leads to difficulty clearing mucus and infections. The condition is linked to changes in the MCIDAS gene, which plays a role in the formation and function of cilia. It typically presents in childhood, though the onset and severity can vary between individuals. Precise prevalence data is not established, so the condition is understood to be uncommon.

The clinical features of this condition center on respiratory issues. Affected individuals almost always exhibit decreased nasal nitric oxide levels, pneumonia, and bronchiectasis, which are considered hallmark findings. In addition, many experience recurrent sinusitis, and a smaller number may develop respiratory insufficiency. Not all individuals experience all features, and severity varies considerably.

The condition is caused by pathogenic variants in the MCIDAS gene. MCIDAS is important for proper ciliary development and function, and disruptions in this gene interfere with the ability of cilia to effectively clear mucus and debris from the airways. The inheritance pattern is autosomal recessive, which means that an affected individual has inherited two altered copies of the gene, one from each parent. Families are encouraged to seek genetic counseling to understand recurrence risks and implications for extended family members. Associated genes include MCIDAS.