By | June 10, 2022

The term ciliopathy encompasses various genetic diseases that cause the cilia or the cells that carry them to malfunction.

What is ciliopathy?

The cilia (also called kinocilia) are protrusions of the cell containing cytoplasm. They are up to 10 µm long and up to 0.25 µm. The cilia are freely mobile and serve to transport liquid and mucous films. The kinocilia beat evenly in succession, resulting in an even cilia stream. For meanings of rapidly progressive glomerulonephritis, please visit

This ensures that the liquid or mucus is removed. In the various diseases, which are grouped together as ciliopathies, the cilia or the cells that carry them are damaged, which means that they can no longer perform their tasks to a sufficient extent.


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

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

Symptoms, Ailments & Signs

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

  • Kartagener Syndrome
  • Meckel-Gruber Syndrome
  • Joubert Syndrome
  • Laurence-Moon-Biedl-Bardet Syndrome (LMBBS)
  • nephronophthisis
  • Senior Loken Syndrome
  • cyst liver
  • Bardet-Biedel Syndrome
  • Ellis-van Creveld Syndrome (EVC)
  • some types of retinopathy
  • certain forms of hydrocephalus
  • Oro-facio-digital syndrome type 1 (OFD)
  • recessive and dominant hereditary cystic kidneys (ARPKD, ADPKD)
  • medullary cystic kidney disease (ADMCKD)
  • Alstrom Syndrome (ALMS)
  • Short-rib polydactyly syndrome (SRPS)
  • Cranio-ectodermal dysplasia
  • asphyxiating thoracic dysplasia (ATD)

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

Kartagener syndrome, also known as primary ciliary dyskinesia, is one of the ciliopthias. In this syndrome there is a dysfunction of the ciliated cells, especially the respiratory ciliated epithelium. The movement of the cilia is disturbed, which is why secretions cannot be transported away or not sufficiently.

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 mostly inherited in an autosomal recessive manner.

All ciliated cells of 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.

Most symptoms are in the respiratory tract. In the course of the disturbed self-cleaning of the bronchial tubes, obstructions and infections of the bronchial tubes often occur. The bronchitis is mostly recurrent and difficult to treat. Furthermore, there are frequent recurring and poorly treatable rhinitis, sinusitis and middle ear infections (otitis media).

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.

Kartagener syndrome is often characterized by an increased susceptibility to infections in childhood. If a situs invertus is present in addition to an increased susceptibility to infection, the presence of Kartagener syndrome can be assumed. If there is no situs invertus, diagnosis is difficult. The presence of Kartagener syndrome is demonstrated by an 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 adequate therapy, those affected can lead a relatively normal life.

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 & course of disease

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.


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 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 possible parents should inform themselves comprehensively in advance about the risks or probable developments. During pregnancy, you should also work closely with a doctor. The 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 the event of optical changes, growth disorders and mental abnormalities, a doctor should be consulted. Functional disorders, peculiarities of the reaction and irregularities in the movement sequences must be examined by a doctor. Ciliopathy is an umbrella term for various disorders. Each of them shows individual characteristics in the patient, so that if there is a suspicion of an existing health discrepancy, a check-up visit with 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 various ciliopathies.


These are genetic diseases. Prevention is therefore not possible.


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 center and the family doctor or specialist. Later, the intervals can be reduced to four times a year. Part of the aftercare is the determination of the blood values, radiological examinations such as CT or MRI and 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 contact with self-help groups that can provide the patient with further measures.