PubMed · 8007296
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
R Amitani, F Kuze. 1994. [Primary ciliary dyskinesia].. https://pubmed.ncbi.nlm.nih.gov/8007296/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Two newborns, both boys, presented with unexplained respiratory distress. One developed recurrent pneumonias in the first neonatal week and was diagnosed with primary ciliary dyskinesia at the age of 2.5 years. The other had respiratory problems besides a situs inversus totalis and was diagnosed with primary ciliary dyskinesia in the neonatal period. Although 65-90% of children with primary ciliary dyskinesia present with neonatal respiratory distress, the disease is often diagnosed after a considerable delay. Primary ciliary dyskinesia should be considered in newborns with unexplained respiratory problems and in children with recurrent respiratory problems. The disease is diagnosed by taking a nasal brush biopsy of the cilia and examining it using electron microscopy or using phase contrast microscopy. Early diagnosis and adequate treatment may prevent further lung damage.
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.
Primary ciliary dyskinesia is a disorder characterized by the presence of recurrent infections of the superior and inferior respiratory tract. It is caused by a recessive autosomic genetic disorder. Its diagnosis is often given late, because other diagnostic possibilities are thought of first. It is common to find many previous visits to the ENT specialist in a medical record. The final diagnosis is given by electronic microscopy observing the ciliary defect, which is frequently due to the absence or anomalies of dineine in the arms and in the structures of the microtubule pairs responsible of movement. The mucus to study is usually obtained from the inferior nasal concha. In the rest of cases the mucus of the tracheobronchial apparatus is only studied if a fibrobronchoscopy is necesary in order to evaluate bronchial compromise or when the nasal sample is not sufficient. The ENT specialist must be alert in order to be able to think of this entity. The genetic advice is the best way to prevent it.