Primary Ciliary Dyskinesia

Primary ciliary dyskinesia is a rare lung disease that is ciliopathic in nature. It is usually characterised by the abnormal working of flagella and cilia. It is associated with infertility and abnormally positioned internal organs. Basically, the cilia are finger-like projections that stick out from the surface of cells. They are microscopic in nature and are found in the linings of organs and tissues, the reproductive system, and the respiratory tract. Primary ciliary dyskinesia is usually caused due to the deficiency of proteins required for the normal functioning of the ciliary membrane and the proteins required for ciliary assembly. Till now, more than 30 different types of primary ciliary dyskinesia have been described, which have been caused by pathogenic variants in about 40 genes. 

Characteristics of Primary Ciliary Dyskinesia 

• Primary ciliary dyskinesia, also known as PCD, is a heterogeneous lung disease. It comprises a heterogeneous group of disorders that are caused due to the congenital absence of cilia and due to the abnormal conditions arising in ciliary structure and motility. 

• Ciliary motility is essential for the normal functioning of respiratory epithelium tissue. Thus, the most common symptoms of primary ciliary dyskinesia are seen in the respiratory tract. 

• It is an autosomal recessive genetic disorder that causes defects in the functioning of cilia lining the respiratory tract. It can also cause defects in the cilia lining of the flagellum of sperm cells and the fallopian tubes.

• It is a rare disease that affects one out of 16,000 to 20,000 individuals in the world. 

Cilia

• Cilia are finger-like projections present on the surface of a cell. They are microscopic in nature.

• Usually, they form the lining of the internal surface of the respiratory tract, various organs and the reproductive system.

• The movement of cilia helps in the transfer of mucus towards the throat. Due to this movement, bacteria, fluid and other foreign particles are eliminated from the lungs.

• Cilia are also present in the reproductive system and in the ventricles of the brain, so they can cause defects in other body systems also.

Primary Ciliary Dyskinesia Symptoms 

The symptoms of primary ciliary dyskinesia vary from one person to another. The main symptom is the absence or reduction of mucus clearance from the lungs which may lead to respiratory infections. Some of the symptoms that are commonly seen are as follows.

• Wheezing 

• Shortness of breath 

• Sinusitis

• Bronchitis 

• Pneumonia 

• Otitis media

• Ear and nose infection

• Recurring chest colds

• Wet cough since birth

Effects of Primary Ciliary Dyskinesia 

• Primary ciliary dyskinesia causes chronic respiratory infections such as sinusitis, pneumonia, bronchitis and otitis media in human beings. 

• It can affect the nervous system and reproductive system because the cilia is present in the reproductive system and in the ventricles of the brain. 

• It affects the males and causes infertility in them because the primary ciliary dyslexia causes abnormalities in the movement of sperm. 

• It can be associated with ectopic pregnancy and infertility in females.

• It also affects the developing embryo as it can lead to causing wet cough in the baby from infancy.

• It can lead to Kartagener’s syndrome in humans. In this syndrome, the internal organs of the body (heart, spleen, liver and intestines) are present on the opposite side of the body.

• Some individuals having PCD also develop a condition of heterotaxy. In this condition, the internal organs are positioned abnormally, or the organs may have an abnormal structure. 

Diagnosis for Primary Ciliary Dyskinesia 

Several diagnostic tests can be done for this condition. Some of them are as follows:

• Nasal nitric oxide levels as a screening test can be done to diagnose primary ciliary dyskinesia. 

• It can be diagnosed early in children with breathing problems and other diseases related to the respiratory system.

• The most common way to diagnose primary ciliary dyskinesia is through the examination of lungs or sinus tissue obtained from genetic testing or from a biopsy. 

Treatment for Primary Ciliary Dyskinesia 

• The most popular treatment for primary ciliary dyskinesia is airway clearance therapy; it is used to keep the lung tissue healthy for as long as possible.

• Various antibiotics, steroids, bronchodilators, and mucus thinners can also be used to treat primary ciliary dyskinesia. 

• In severe cases, lung transplantation is also an option for the treatment of primary ciliary dyskinesia. 

Conclusion 

When a person suffers from primary ciliary dyskinesia, the life expectancy is not certain. This condition is genetically inherited and is dependent upon the structures that make up the cilia. It comprises a heterogeneous group of disorders that are caused due to the congenital absence of cilia and due to the abnormal conditions arising in ciliary structure and motility. It primarily affects the respiratory system but can also affect the nervous system and reproductive system because the cilia are present in the reproductive system and in the ventricles of the brain. It affects the males and causes infertility in them because the primary ciliary dyslexia causes abnormalities in the movement of sperm. It can be associated with ectopic pregnancy and infertility in females. The most popular treatment for primary ciliary dyskinesia is airway clearance therapy; it is used to keep the lung tissue healthy for as long as possible. Various antibiotics, steroids, bronchodilators and mucus thinners can also be used to treat primary ciliary dyskinesia. It is a rare disease that affects one out of 16,000 to 20,000 individuals in the world.