Primary ciliary dyskinesia

Primary ciliary dyskinesia is a rare genetic abnormality that can cause abnormal ultrastructural morphology of cilia, and the disease is rarely diagnosed in the neonatal period. This condition should be considered in cases of unexplained neonatal respiratory distress, especially in the presence of complete ectopic ectopic and multiple atelectasis. Ciliary studies are needed during the neonatal period to confirm the diagnosis. This disease is also called immobilized ciliated syndrome. Since some cases with sinusitis, bronchiectasis, and right heart were reported in 1901, Kartagener reported 4 cases of this type of malformation in 1933, which later became Kartagener syndrome (KS). Subsequent research found that [[respiratory tract]] [epithelial cell]] ciliary dynein arm defects in patients with KS were related to decreased mucosal clearance and loss of cilia and sperm motility, and proposed to name the disease as immobilized cilia syndrome. Now also known as primary ciliary dyskinesia. ICS is a genetic defect in the structure of cilia. It is mainly a defect of the ciliary protein arm or radiation, which makes the ciliary movement abnormal, and the cilia on the mucosa clear up and dysfunction, which causes repeated infections. The sperm tail is a special kind of cilia. When its structure is abnormal, sperm loses its motor function, causing infertility. During embryonic development, if the structure of cilia is abnormal, visceral rotation will occur randomly due to the lack of normal cilia swinging; during 10 to 15 days of pregnancy, a left rotation of the viscera instead of a normal right rotation will cause transposition of organs.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.