Primary ciliary dyskinaesia

• Immotile cilia syndrome; Kartagener's syndrome.

INCIDENCE

• It is impossible to provide accurate statistics regarding the number of people who are afflicted by this syndrome; however, it is speculated that as many as one child in every 4000 may be affected.
• Primary ciliary dyskinaesia can affect either males or females, but it is more common in males.

HISTORY

• In 1933, Dr. Kartagener made the connection between recurrent chest and sinus infections and particular anomalies affecting the body's internal organs.

• The final abnormality was that some of the body's organs were located on the opposite side of the body than they should have been.

• This may include the heart, which, in these particular anatomical configurations, is located on the right side of the chest.

• In 1970, it was determined that the fundamental issue that led to the recurring sinus and chest infections was an abnormality in the cilia in certain parts of the body.

• This discovery was made. (Cilia are the minute hairs that can be found predominantly in all parts of the respiratory tract, as well as in other parts of the body in general.)

• Their job is to move secretions up and out of the respiratory tract so that breathing can continue normally.

• This is accomplished by the cilia making a rhythmic, rocking motion in both directions.

• The cilia are relatively motionless in patients who have this syndrome.

• This prevents mucus from being expelled from the respiratory tract, which is the intended effect.

• The static mucus is then easily susceptible to becoming infected, which results in the classic symptoms of infections of the upper and lower respiratory tracts.

• Only a small percentage of people who have primary ciliary dyskinaesia are found to have the condition known as "situs invertus," which refers to the condition in which internal organs are located on the incorrect side of the body.

• This discovery was made by Dr. Kartagener.

CAUSATION

• Recent studies have shown that this condition is inherited in an autosomal recessive fashion.
• At this time, there is no prenatal diagnostic test that can be carried out.

CHARACTERISTICS

• As a result of the difficulty in transferring their natural secretions, it is common for infants born with this disease to have some breathing issues right after birth.
• This, however, rapidly improves with the correct newborn care being administered.
  • Until the child is in their early toddler years, there are frequently very little symptoms that the child has any specific ailment; however, it is frequently seen that the tiny baby has thick secretions constantly running from his or her nose.
  • It's also possible that he or she has an issue with their nose being plugged seemingly forever, which might make feeding them difficult.
• It is likely that the child will suffer from upper and lower respiratory tract infections on a regular basis while they are still in their toddler years.
  • At this stage in their development, it is natural for a good number of youngsters to experience recurrent bouts of coughing and cold symptoms.
  • The youngster who has primary ciliary dyskinasia, on the other hand, will have a nose that runs virtually constantly, and thick mucus will be a persistent issue for them.
  • In addition to this, he or she will have a hacking cough all the time. Infections of the upper respiratory tract will frequently spread down into the lungs, increasing the likelihood that the individual may get pneumonia.
• In addition to respiratory infections, ear infections frequently accompany periods of illness caused by respiratory viruses.
  • Conductive deafness can also be caused by the thick mucus that is left behind in the middle ear after these infections have been treated.
• It is also common for sinusitis to be linked with infections, which can result in headaches and pain in the cheek regions.
• A loss of a person's sense of smell is another typical symptom of this condition.
• A person who lacks a normal sense of smell may not be alerted to the possible risks of, for example, leaking gas and spoiled food, in addition to missing out on a good deal of the pleasure that would normally be available to them.
• Bronchiectasis is a condition that can develop as a consequence of persistent lung infections.
  • When this illness is present, the walls of the alveoli that are found in the lungs get damaged.
  • This results in a significant reduction in the lungs' capacity to exchange oxygen, and it also makes it possible for excess mucus to build.
  • These alterations to the lungs won't take place until a good number of years after persistent infection.
• Situs invertus is quite common in children who have this syndrome, however it is not a necessary consequence of the condition.
  • The organs that are affected can vary; for instance, in some children, only the heart (also known as the dextrocardia, which refers to the heart on the right) is affected.
  • It is also possible to reverse the function of other abdominal organs.
  • It is not necessary for these anomalies to result in any symptoms; nevertheless, occasionally additional cardiac problems may also be present.
• The symptoms of this ailment might range from serious lung issues to just mild recurring chest infections, and the aforementioned irregularities may not be connected together for a number of years before being recognized as a possible cause of the condition. When it is understood that they might be linked, however, electron microscopy can be utilized to investigate how mobile the cilia are inside the cell.
  • A nasal scrape can be used to collect a sample of cilia from the nose. This test has a high cost and requires a qualified interpreter to read the results.
• Primary cilary dyskinaesia is connected with a number of complications, one of which is male infertility.
• The structure of the tail of the sperm is extremely similar to the structure of the cilia found in other regions of the body.
  • It is necessary for there to be movement at this tail in order for appropriate fertilization to take place.
  • This activity is significantly diminished in those who have primary ciliary dyskinaesia.
  • Because of this, the sperm are unable to move about to the extent that is necessary for fertilization to take place.

MANAGEMENT IMPLICATIONS

• When treating severe respiratory tract infections with antibiotics, treatment should be sustained for the appropriate amount of time and at the maximum dose for as long as it is necessary.
  • Primary ciliary dyskinaesia is characterized by the presence of viscous secretions, which makes it challenging for antibiotics to penetrate the condition.
• Physiotherapy can be helpful for a child who has significant symptoms and is unable to cough up his or her sticky secretions because of those symptoms.
  • When performed twice or three times a day, postural drainage can assist in preventing the accumulation of mucus and keeping infection to a minimum.
  • This is of utmost significance in early children in order to forestall the development of bronchiectasis in later years.
  • Children are able to teach themselves the procedures necessary to successfully clean their chests by the time they are nine to 10 years old.
• Children diagnosed with this syndrome should be encouraged to participate in physical activities, provided that there is not another medical condition that requires the kid to avoid physical exercise, such as a heart abnormality.
• The benefits of sports and other physically demanding activities, especially when done outside, cannot be overstated.
• Hearing should be tested on a regular basis for all children who have frequent attacks of otitis media associated with the condition.
  • If this problem arises between the ages of one and three, when speech development is at its most rapid, there is a possibility that the child's ability to acquire this skill will be hampered.
  • Under these circumstances, speech therapy may be required after the treatment of the hearing impairment.
• In some cases, a myringotomy will be required in order to remove extra fluid from the middle ear.
  • In order to facilitate the removal of this fluid, a number of authorities recommend the implantation of ventilation tubes, often known as "grommets."
• If heart defects are evident, then the necessary treatment must be administered.

THE FUTURE

• This is something that will be determined by the degree of ciliary abnormalities.
• Some individuals will only experience moderate irritation as a result of their chronic nasal and sinus infections.
  • Others will frequently be rendered unable to function as a result of acute lung infections and the impacts of bronchiectasis.
  • Because of these issues with the lungs, smoking is not recommended.
  • The effects of the nicotine will have the effect of further inhibiting the action of the cilia that are found in the lungs.
• Those who do not have a sense of smell and those who have a mild hearing loss might not discover they have either condition unless they are specifically questioned or tested on it.
• Because of this illness, it is possible that some males will be sterile.
• Unless there are accompanying heart issues or the bronchiectasis is very severe, there is no reduction in life expectancy due to bronchiectasis.

\