Cilia Disorders

The cilia are finger-like microscopic projections that stick out from the surface of the cells present in the lining of the respiratory tract, around the reproductive organs, and other tissues and organs. On the other hand, Flagella works like a propeller that pushes the sperm cells forward. Cilia help in expelling dirt from the lungs and the respiratory tract by moving back and forth in a coordinated way to push the mucus, filled with dirt, bacteria, and lung particles, to the throat. 

Cilia disorders overview

Cilia disorders can cause an individual to develop frequent respiratory tract infections from early childhood, suggesting that cilia play a vital role in clearing foetal fluid from the baby’s lungs. Without the proper functioning of cilia in any respiratory tract, the bacteria remains there and causes respiratory infections. Individuals with this disorder suffer from year-long nasal congestion and chronic cough.  

People with cilia disorders also have abnormally placed internal organs within their abdomen and chest. For example, the heart is placed on the right side instead of the left side, which is a mirror-image reversal of the internal organs called situs inversus totalis—this abnormality of organ placement does not always cause major health issues. Infection of the ear is also caused by cilia disorder. Mainly, young children suffer from recurring ear infections, leading to permanent hearing loss if not treated early.  

Primary ciliary dyskinesia (PCD)

Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic condition in the microscopic organelles known as the cilia, having defective functions in the respiratory tract which prevent the removal of mucous from the lungs, paranasal sinuses as well as middle ears. 

Bronchiectasis is the damage to the pathway between the windpipe and the lungs, a major cause of respiratory tract congestion and can lead to permanent lung damage. Cilia works even before the baby’s birth, as this process of development begins in the womb and is involved in the arrangements of the organs within the baby’s body. The effect goes till adulthood in both men and women. In the case of men, cilia and flagella serve to propel the sperm to the egg; therefore, cilia disorder in men often leads to infertility issues. In the case of women, the cilia disorder in the fallopian tubes fails to effectively push the egg to the uterus, thus, causing infertility. 

There have been efforts from medical experts worldwide to identify gene coding for dynein arm proteins or those from other ciliary structures regarding PCD. DNAI1 and DNAH5, which are the genes where the mutation is likely to occur due to cilia disorder, get their motility from the dynein arms and are the code for cilia proteins. The role of the gene DNAH5 in heterotaxy syndromes and situs inversus totalis is being studied. So far, 32 genes have been implicated in this condition. 

Axonemes

The elongated structures that make up the cilia and flagella are called Axonemes, which cannot move because of this genetically inherited condition as the inner and outer dynein arms, central apparatus, and radial spokes are missing or dysfunctional. Often, despite the adequate presence of structure, there can be chemical defects that interfere with the ciliary functions. Specialised monocilia seem to be the root cause of this problem, as they lack the central pair microtubules of ordinary motile cilia and rotate clockwise instead of beating. 

The genetic syndromes and genetic diseases were previously thought to not be related in the medical literature. However, after recent findings in genetic research, they were closely linked to the genotypic root cause of the widely varying phenotypical-observed disorders, which means primary ciliary dyskinesia is a ciliopathy. Other known ciliopathies include liver disease, retinal degeneration, polycystic kidney, etc. 

Tests for cIlia disorder

A few tests for diagnosing this disorder include screening tests for nasal nitric oxide level, frequency and electron microscopic examination for dynein arms, and light microscopic biopsies checking the ciliary beat pattern, which have been considered the definite diagnosis method. 

Celiac disease is also an autoimmune disorder that happens in the intestines, leading to malabsorption of nutrients and other issues like diarrhoea, weight loss, bloating, constipation, etc., due to gluten sensitivity. Over time, this trigger to the immunity ends up damaging the inner lining of the intestinal wall. If not treated early, there is a chance of malabsorption, depriving the body of vital nutrients.  

How to repair lung cilia?

Cilia disorder in the lungs is a serious issue if not treated soon after diagnosis, and effective airway clearance is one way that can help with mucus buildup. Manual chest therapy or vest therapy, breathing exercise, or combining a few methods can facilitate airway clearance. The trachea, lungs, and cardiopulmonary vasculature make up the respiratory tract, and clearing this pathway is vital to providing oxygen throughout the body. 

Radiopaedia

As radiologists are required in the medical field to diagnose several diseases, including the development of a fetus and diagnosing the internal organs, which is something radiopaedia is trying to achieve by making the educational radiology resource accessible to everyone. It has been compiled by radiologists and radiology trainees worldwide and strives to create the best radiology reference, including a radiology encyclopedia and imaging case repository. It has an open edit nature for the articles that give freedom to the radiologists and trainees, and other healthcare professionals to refine most of its contents for the users. 

Conclusion

As we have seen, the proper functioning of cilia is crucial right from the foetal development that decides the structure and functions of the basic human organs, including the respiratory tract, ear canal, reproductive system, and the placement of organs within the body. Although it happens at a cellular level, early diagnosis and treatment are paramount to limiting the inconveniences caused by the disorder.