Macleod's syndrome refers to severe diseases of the central nervous system. This pathology is innate, caused by a gene mutation. However, its first symptoms do not occur in childhood, but in adulthood. Very often, people around take the manifestations of this pathology in the patient for a mental disorder. After all, the patient’s behavior really becomes strange. What are the causes of this disorder? And is it possible to get rid of such a pathology? These issues will be addressed.
Pathogenesis
Macleod's syndrome is a genetic disease. The pathology got its name by the name of the patient who for the first time this violation was laboratory confirmed. This is a fairly rare congenital disease that occurs only in men. In genetics, another name also occurs - the Macleod phenotype.
In the human body is a protein - Kell glycoprotein. It is an antigen that is found on the surface of red blood cells. For the coding of this protein, a special HC gene is responsible. Kell proteins are essential for the normal functioning of the immune system, central nervous system and heart.
In patients with Macleod's syndrome, Kell antigens are not found on the surface of red blood cells. This is due to congenital disorders in the HC gene. As a result of such anomalies, the coding of Kell proteins is disrupted, which leads to various malfunctions in the body.
Inheritance
The mechanism of development of this pathology is associated with changes in the X chromosome. Women are carriers of the pathological gene, they transmit this disease to their male descendants.
This violation is always family in nature. Suppose that the father is completely healthy, and the mother is a carrier of pathology. The probability of having a sick boy is 50%. Also, in half the cases, such a pair gives birth to girls who become carriers of the pathological gene.
If both men and women have an altered chromosome, then the probability of a sick boy being born is close to 100%.
If the father has the Macleod phenotype, and the mother is not a carrier of pathology, then the boys in such a pair are born completely healthy. However, in 100% of cases, daughters are born with a modified gene, they can transmit this disease to their descendants.
The immediate cause of Macleod's syndrome is hereditary gene abnormalities. However, medicine has not established what exactly causes chromosome abnormalities. Therefore, to prevent such a disease is quite difficult.
Symptomatology
Signs of Macleod's syndrome usually appear in middle-aged men. The disease begins with mental disorders. Patients suddenly have causeless anxiety and depression. They become emotionally unstable and unrestrained, suffer from mood swings. Often excessive suspicion develops.
At the initial stage of the disease, doctors often take these symptoms for manifestations of bipolar disorder, schizophrenia, and other mental illnesses. Yes, and the patients themselves and their relatives do not always associate behavioral changes with hereditary pathology.
As the disease progresses, the patient develops neurological symptoms. There are tics, involuntary grimacing, twitching of arms and legs. The patient weakens and atrophies the muscles of the legs. In half the cases, convulsive seizures appear. With age, the patient develops memory impairment and dementia. Voice tics are also observed: patients make strange involuntary sounds (sniffing, grunting).
What are the consequences of Macleod's syndrome? This disease poses a serious danger to the health of the patient. After all, patients suffer not only from mental and neurological disorders. As the pathology develops, they may experience the following complications:
- violation of cardiac activity (cardiomyopathy);
- the formation of nodules on the skin (granulomatosis);
- anemia.
In addition, immunity is sharply reduced in patients. Patients often suffer from bacterial and fungal pathologies, which occur in their severe form.
Diagnostics
How to identify this disease? The most accurate diagnostic method is a special blood test for phenotyping of red blood cells. Using this study, the presence of the Kell group protein in red blood cells is detected. Such tests are carried out in many medical laboratories.
In addition, a study is prescribed for the morphology of red blood cells. In a blood smear in patients, dentate-shaped erythrocytes, acanthocytes, are found.
Assign an MRI of the brain. In people with the Macleod phenotype, the frontal lobes are usually reduced. Changes in the subcortical nuclei of the brain are noted.
Neurological examination of the patient is also necessary. Usually, tendon reflexes are revealed in patients.
Treatment
Currently, special methods for treating Macleod syndrome have not been developed. It is possible to carry out only symptomatic therapy, which will slightly improve the patient's condition. The following groups of drugs are prescribed:
- anticonvulsants: Finlepsin, Valproate Sodium, Phenazepam, Diazepam;
- atypical antipsychotics: Rispolept, Eglonil, Quetiapine, Olanzapine.
- Nootropic drugs (for dementia): Piracetam, Cerebrolysin, Vinpocetine, Phenibut, Actovegin.
These drugs can not completely stop the manifestations of the disease. However, they reduce unpleasant symptoms, improve the patient's quality of life.
Forecast
If we talk about the possibility of a complete cure, the prognosis is unfavorable. Modern medicine cannot affect gene changes.
The life expectancy of the patient depends on the characteristics of the development of pathology. If the disease is severe, then 5-10 years after the first signs of pathology appear, patients often die from heart failure. If the symptoms of the disease are mild, the Macleod phenotype may not affect life expectancy.
Prevention
Specific prophylaxis of Macleod syndrome is not developed. Such a pathology cannot be detected by prenatal diagnosis. For a couple planning a baby, you need to consult a geneticist. This is especially important if a man or woman has had cases of this disease in the family.