Chediak-Higashi syndrome refers to a genetically determined pathological disease that develops and progresses in childhood. The clinical picture of the course of the disease is unfavorable, as patients with the syndrome have a tendency to an increased risk of viral or bacterial infection.
Pathogenesis of Chediak-Higashi Syndrome
Pathogenesis is associated with an abnormality in the structure of cell membranes, a malfunction in the system of collective microtubules, and a violation of the interaction with lysosome membranes. Clinical manifestations can be explained by the incorrect distribution of lysosomal enzymes. The frequency and severity of pyogenic infections is affected by a decrease in the activity of oxygen metabolism and intracellular digestion of microbes in phagocytes due to lag and incomplete release of hydrolytic lysosomal enzymes from giant granules into the phagosomes. In patients, the antibody-dependent cytotoxicity of lymphocytes and the activity of natural killer cells are reduced. Pathology refers to primary immunodeficiency.
What is the danger?
The danger of the syndrome lies in the body’s tendency to form harmful neoplasms under the influence of pathology, namely cancer cells and malignant tumors. Most often, such children die before the age of 10 years, that is, they do not survive to adolescence. Chediak-Higashi syndrome in immunology is not very common. It is inherited in an autosomal recessive manner.
Nature of the disease
The disease is hereditary, however, it progresses as an autosomal recessive pathology and, as a rule, it is accompanied by a violation of pigmentation, as well as increased sensitivity to various harmful microorganisms due to disruption of neutrophils. It is in them that abnormal cells with lysosomal enzymes, acid phosphatases and peroxidase are located.
After all, Chediak-Higashi syndrome is a consequence of damage to cell membranes. Such pathogenic formations are mainly found in lymphocytes, erythrocytes, platelets, as well as skin fibroblasts; subsequently, due to active growth, they can cause serious diseases such as anemia, thrombocytopenia and leukopenia. In the body, there is a large-scale damage to all body tissues, as well as disruption of all vital systems and organs. The disease as a pathological process occurs at the genetic level.
Symptoms of the syndrome
Chediaki-Higashi syndrome has pronounced and obvious signs that immediately cause concern for the child’s health. The first external manifestation of the disease is a violation of pigmentation. It is localized in the iris of the eye, on the hair, closed areas of the skin, as well as in the neck. In addition, there is an involuntary movement of the eyeballs, photophobia, expressed intolerance to bright light, nervous tic and blepharospasm.
What you should pay attention to?
There are situations when all of the above symptoms do not cause anxiety in the loved ones of a child, however, it should be borne in mind that the patient is prone to frequent viral and bacterial infections. The action of infections is systemic, that is, all systems and organs in the body are infected. Quite often, disorders affect the urinary and digestive systems, as well as the respiratory system, mucous membranes and skin integuments. The most common pathological process of fungal origin caused by pathogens such as streptococcus and staphylococcus.
Skin damage
In patients with Chediaki-Higashi syndrome, an extensive and widespread skin lesion occurs, which is characterized by the formation of papules and pustules, as well as yellowish crusts of a pathogenic nature.
Similar pathologies of the skin violate the temperature regime of the body, and are also accompanied by swelling and severe itching, the formation of long healing ulcers. The defeat of the fungus is manifested in the form of peeling, plaque on the mucous membrane, granulomas and fistulas. Symptoms of Chediak-Higashi syndrome are unpleasant.
The defeat of the digestive tract
Damage to the organs of the gastrointestinal tract causes an increase in dyspepsia, which leads to nausea, vomiting, diarrhea and an increase in body temperature, which is accompanied by severe chills and fever. In this situation, it is necessary to restore the water balance in the body as soon as possible. Otherwise, unpredictable and dangerous consequences for the whole organism may arise.
The defeat of the upper respiratory tract of a systemic nature may be accompanied by rhinitis of allergic genesis, difficult to stop sneezing and paroxysmal cough. If you do not take the necessary measures, wet or dry rales may appear, which can be clearly heard when listening. Fever and a sharp increase in temperature are also possible.
On the genitourinary system, the syndrome is reflected in the form of a painful and difficult process of urination, accumulation of purulent secretions, blood impurities in the composition of urine, and in some cases sepsis.
If Chediak-Higashi syndrome is accompanied by anemia, it is manifested by the following symptoms: fatigue and decreased performance, pale skin and mucous membranes. Thrombocytopenia is manifested by internal and external hemorrhages, as well as impaired functioning of all organs and systems.
Thus, we can conclude that the syndrome begins to attack the most weakened system, gradually destroying it, while there are signs of the underlying disease.
Diagnosis of Chediak-Higashi Syndrome
To establish the presence of the syndrome, a thorough and detailed examination is necessary. It will allow not only to identify the disease itself, but also the accompanying ailments. Therefore, at the initial stage, it is necessary to find a qualified specialist who will be able to give a correct assessment of all existing complaints. The doctor studies the symptoms and directs the patient to a thorough examination. As a rule, the following laboratory and clinical studies are carried out:
- General, as well as biochemical blood tests, which allows you to identify the level of white blood cells and red blood cells. Red blood cell deficiency will indicate anemia, while a reduced white blood cell count will indicate leukopenia.
- A special blood test for immunodeficiency is also part of the diagnosis. In this case, the ratio of T and B lymphocytes is checked. It should be noted that with the syndrome, this indicator may be normal.
- Ultrasonography. Reliably indicate the presence and predominance of cancer cells and pathogenic neoplasms in the body. In addition, ultrasound can identify pathologies of the heart, abdominal cavity and other important organs.
- An X-ray examination of the sternum makes it possible to check the size of the myocardium and pulmonary structures for the presence of parenchyma.
- An electrocardiogram is able to provide information about heart defects. During the ECG, the path of the electrical pulse and its connection with the myocardial region are visible.
After a full examination, the attending physician will be able to draw the appropriate conclusions and correctly make the diagnosis, as well as give further recommendations to the patient.
Treatment
Chediak-Higashi syndrome is a genetic disease, therefore, preventive measures and preventing its development in the children's body are almost impossible. The clinical outcome completely depends on the degree of progression of the disease in the initial stages, subject to early diagnosis, it can be stopped. For this reason, a woman must take a responsible approach to pregnancy planning. If there were similar diseases in the family, they should be reported to the attending physician, as well as special tests to detect genetic diseases.
As for the treatment of pathology, there are no specific schemes. A universal medicine that can permanently eliminate pathology does not exist. Therefore, therapy depends on the individual characteristics of the course of the disease in each case.
Prevention
The basis of therapy is the thorough prevention of secondary infections. This is necessary to prevent immune effects on the body. If the child has already been infected with viruses or harmful bacteria, antibiotic therapy is prescribed. Various vitamin complexes and immunostimulants are also often prescribed. Unfortunately, Chediak-Higashi syndrome most often leads to death of the patient before the age of 10 years.