ciliary dyskinesia, primary, 43

Ciliary dyskinesia, primary, 43 is a condition that primarily affects the respiratory system and can have broader implications on other organs. It arises from pathogenic changes in the FOXJ1 gene, which is crucial for the development and proper function of cilia. Affected individuals typically present in early life with chronic respiratory issues, and additional complications may be observed in other systems. Although the exact prevalence is not clearly established, the pattern of symptoms is consistently observed among those affected.

The clinical features of this condition are marked by persistent respiratory challenges. Almost all affected individuals experience recurrent lower and upper respiratory tract infections, chronic sinusitis, bronchiectasis, and a productive cough, along with chronic rhinitis. Additionally, noncommunicating hydrocephalus is a characteristic finding. A subset of patients may also present with abdominal situs inversus and neonatal respiratory distress. Not all individuals experience all features, and severity varies considerably.

This condition is linked to pathogenic variants in the FOXJ1 gene, which plays an essential role in the formation and regulation of cilia, the tiny hair-like structures that help clear mucus and pathogens from the respiratory tract. Disruption of FOXJ1 function leads to compromised ciliary movement and the ensuing respiratory and related complications. Inheritance is autosomal dominant, meaning that a single altered copy of the FOXJ1 gene is sufficient to cause the condition, and affected individuals have a 50% chance of passing the variant on to their offspring. However, the severity and specific symptoms may vary among family members. Associated genes include FOXJ1.