Diseases

Ciliopathy – Causes, Symptoms & Treatment

Ciliopathy

The term ciliopathy summarizes various genetic diseases that cause a malfunction of the cilia or the cells carrying them.

What is ciliopathy?

The cilia (also called kinocilia) are cytoplasmic-containing protrusions of the cell. They are up to 10 μm long and up to 0.25 μm. The cilia are freely movable and serve to transport liquid and mucus films. The kinocilia beat evenly one after the other, resulting in a uniform flicker current.

This ensures the removal of the liquid or mucus. In the various diseases that are grouped together as ciliopathies, the cilia or the Cells carrying them are damaged, which means that they can no longer perform their tasks sufficiently.

Causes

Ciliopathies are genetic diseases. A large number of hereditary diseases can now be assigned to ciliopathies; for some, conclusive evidence has not yet been provided. Ciliopathy is therefore hereditary.

The individual ciliopathies differ considerably from each other, since the cilia are located in many different places of the human body and perform different tasks there. As a result, the symptoms and diagnosis of ciliopathies are not uniform, but there is a considerable difference between the individual diseases.

Symptoms, complaints & signs

The symptoms, complaints and signs of ciliopathy are not uniform, since ciliopathy is not a closed clinical picture, but is merely an umbrella term for various Hereditary diseases of cilia. For this reason, uniform diagnostics are not possible. Ciliopathies include a wide variety of diseases with sometimes very different symptoms:

In the following, the symptoms and diagnostics of Kartagener syndromes and Laurence-Moon-Biedl-Bardet syndrome (LMBBS) are presented as examples.

Kartagener syndrome, also called primary ciliary dyskinesia, belongs to the ciliopthia. In this syndrome, there is a dysfunction of the cilia-bearing cells, especially the respiratory ciliated epithelium. The movement of the cilia is disturbed, which is why secretions can not or not sufficiently be removed.

As a result, the self-cleaning mechanism of the bronchi (mucociliary clearance) carried by the respiratory ciliated epithelium is severely impaired in this syndrome, which is due to ciliary dysfunction. Kartagener syndrome is usually inherited in an autosomal recessive manner.

All ciliated cells in the body are affected, i.e. in addition to the respiratory ciliated epithelium, cells of the auditory tube (tuba auditiva) and the paranasal sinuses are also affected. However, the focus of the symptoms is in the area of the bronchi, which is due to the fact that most ciliated cells are found there.

In about 50 percent of patients affected by cagener syndrome, an abnormal position of the internal organs occurs during the embryonic phase in the form of a situs invertus, a mirror-image arrangement of the organs and vessels. Affected men are usually sterile due to the disturbed dyskinesia of the sperm. In women, sterility is most often due to dyskinesia of the cilia in the fallopian tube.

Bronchiectasis, an irreversible expansion of the bronchus, often occurs as the disease progresses. Respiratory distress syndrome can occur in newborns. Hydrocephalus, an expansion of the inner or outer cerebrospinal fluid spaces, can also occur in newborns.

The Kartagener syndrome is often characterized by an increased susceptibility to infections in childhood. If there is a situs invertus in addition to an increased susceptibility to infection, the presence of Kartagener syndrome can be assumed. If the situs invertus is missing, diagnosis is difficult to achieve. Evidence of the presence of Kartagener syndrome is provided by electron microscopic examination of brush swabs or biopsies of the mucous membranes concerned.

A causal therapy is not possible. Treatment is symptomatic. With early diagnosis and sufficient therapy, a relatively normal life is possible for those affected.

The Laurence-Moon-Bardet-Biedl syndrome is also one of the ciliopathies. It is characterized by a wide variety of mutations and malformations that are triggered by Mutations on different chromosomes or gene sites. Inheritance is autosomal recessive. A variety of symptoms can occur, depending on the genes affected.

These are not equally pronounced in every patient. These symptoms include: obesity ; Arterial hypertension ; diabetes mellitus ; short stature ; Muscle hypotonia ; malformations of the liver, ovaries and bile ducts; Hypogonadism ; renal hypoplasia; kidney failure ; pyelonephritis ; motor disorders; intellectual disability ; Retinitis pigmentosa ; blindness ; anosmia ; Deafness ; hemeralopia; a short neck; noticeable corners of the eyelids; polydactyly and syndactyly.

The diagnosis of LMBBS is difficult because the symptoms also occur in a variety of other diseases. As with Kartagener syndrome, the definitive diagnosis is made using a molecular biological test. A causal therapy does not exist; treatment is symptomatic.

Diagnosis & disease progression

Diagnosis and course of the disease are not uniform in the various forms of ciliopathies. Symptoms as well as diagnostics and prognosis differed significantly from each other. What the various ciliopathies have in common is that the diagnosis can be confirmed using molecular biological tests.

Complications

 

As a rule, those affected by ciliopathy suffer from a number of different syndromes and thus from different complications. These also depend very much on the exact form of the disease, so that it is usually not possible to make a general prediction. Ciliopathy primarily leads to an infection in the respiratory tract.

This can cause breathing difficulties and possibly shortness of breath. The quality of life of those affected is significantly restricted, so that it is no longer possible to carry out strenuous activities or sporting activities without further ado. Child development is also delayed by the disease.

In many cases, those affected also very often suffer from inflammation in the nose or in the airways. Most of those affected also do not have the ability to reproduce, so that they also suffer from psychological problems or depression.

There are no special complications in the treatment of ciliopathy. However, a complete cure is not possible, so that those affected usually have to take antibiotics and other medication throughout their lives.

When should you go to the doctor?

If there is a diagnosed hereditary disease within the family, cooperation with a doctor should be sought before planning a possible offspring. The potential parents should inform themselves comprehensively in advance about the risks or probable developments. During pregnancy, you should also work closely with a doctor. The preventive medical check-ups offered should be taken advantage of in order to be able to react quickly and comprehensively to possible health problems.

Since no causal therapies can be applied to hereditary diseases, early support is particularly important. If there is no knowledge of a family-related genetic mutation, members of the obstetric team often only notice abnormalities immediately after the birth. In a routine process, the necessary examinations are carried out in order to reach a diagnosis. At the latest during the development of the child, irregularities become apparent in comparison to peers.

In case of optical changes, growth disorders and mental abnormalities, a doctor should be consulted. Malfunctions, peculiarities of the reaction as well as irregularities of the movement sequences should be examined by a doctor. Ciliopathy is an umbrella term for various disorders. Each of them shows individual characteristics in the patient, so that already in the case of suspicion of an existing health discrepancy, a control visit to a doctor should be initiated.

 

 

Treatment & Therapy

Causal therapies are not available, the diseases cannot be cured but only alleviated by symptomatic therapy. The therapies are also different for the different ciliopathies.

Prevention

These are genetic diseases. Prevention is therefore not possible.

Aftercare

The aftercare of a ciliopathy is primarily based on the type and severity of the disease. Diseases such as Laurence-Moon-Biedl-Bardet syndrome or Joubert syndrome cannot be cured. Follow-up care focuses on reviewing treatable symptoms and readjusting medications. Since the patients are often chronically ill, there are regular follow-up examinations.

Symptoms that have healed, such as chronic pain or symptoms of poisoning, must be treated with medication. If the ciliopathy is due to a treatable condition such as a cystic kidney, the follow-up care depends on the course of the disease and the success of the therapy. If the outcome is positive, the kidney can be transplanted.

After such a kidney transplant, an examination is carried out at weekly intervals in cooperation with the transplant centre and the family doctor or .dem specialist. Later, the intervals can be reduced to four times a year. Part of the aftercare is the determination of blood values, radiological examinations such as CT or MRI as well as other examinations depending on the underlying disease.

The general condition of the patient is always checked at the same time. If the ciliopathy is caused by other diseases, the responsible specialists must be consulted. In any case, a specialist in kidney diseases and the family doctor are part of the medical team.

You can do that yourself

Ciliopathies can take many different forms and must always be treated individually. General measures that can promote recovery are Physiotherapy and a change in lifestyle. Forms such as Joubert syndrome or Laurence-Moon-Bardet-Biedl syndrome are always treated symptomatically, whereby the patient should eat healthily, exercise sufficiently, but take it easy overall. This at least alleviates the symptoms.

If drugs have been prescribed, careful attention must be paid to any side effects and interactions, as these can have a negative effect on the development of other ciliopathies. If complications arise, the doctor must be informed. Patients should keep a complaints diary and make a detailed note of all conspicuous symptoms and complaints.

The doctor responsible must decide in detail which measures are sensible in the case of ciliopathy. Due to the various forms of the condition, an individual treatment plan is always necessary. It is best for those affected to contact their Family Doctor , who can give further tips on how best to support medical treatment. He can also establish contacts with self-help groups that can provide the patients with further measures.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.