McLeod's syndrome refers to severe diseases of the central nervous system. This pathology is congenital in nature, caused by a gene mutation. However, its first symptoms do not appear in childhood, but in adulthood. Very often, people around take the manifestations of this pathology in a patient for a mental disorder. After all, the behavior of the patient really becomes strange. What are the reasons for this disorder? And is it possible to get rid of such a pathology? These issues will be addressed.
Pathogenesis
McLeod Syndrome is a genetic disorder. Pathology got its name from the name of the patient in whom this disorder was first laboratory confirmed. This is a fairly rare congenital disease that occurs only in men. In genetics, there is also a different name - the MacLeod phenotype.
In the human body there is a protein - glycoprotein Kell. It is an antigen that is found on the surface of red blood cells. A special XK gene is responsible for encoding this protein. Kell group proteins are essential fornormal functioning of the immune system, central nervous system and heart.
Kell group antigens are not found on the surface of red blood cells in patients with McLeod's syndrome. 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 for the 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 offspring.
This violation is always familial. Suppose that the father is completely he althy, and the mother is a carrier of pathology. The probability of having a sick boy is 50%. Also, in half the cases, girls are born to such a couple, who become carriers of the pathological gene.
If both a man and a woman have an altered chromosome, then the probability of a sick boy being born approaches 100%.
If the father has the McLeod phenotype, and the mother is not a carrier of pathology, then the boys of such a couple are born quite he althy. However, in 100% of cases, daughters are born with a modified gene, they can pass this disease to their offspring.
The immediate cause of McLeod's syndrome is hereditary gene anomalies. However, medicine has not established what exactly causes chromosomal abnormalities. Therefore, it is quite difficult to prevent such a disease.
Symptomatics
Signs of the syndromeMcLeod usually appear in men in middle age. The disease begins with mental disorders. Patients suddenly develop unreasonable anxiety and depression. They become emotionally unstable and unrestrained, suffer from mood swings. Excessive suspicion often develops.
At the initial stage of the disease, doctors often mistake these symptoms for manifestations of bipolar disorder, schizophrenia and other mental illnesses. 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 the arms and legs. The patient's leg muscles weaken and atrophy. In half of the cases, convulsive seizures appear. With age, the patient develops memory impairment and dementia. Voice tics are also observed: patients make strange involuntary sounds (sniffling, grunting).
What are the consequences of McLeod's syndrome? This disease poses a serious he alth risk to the patient. After all, patients suffer not only mental and neurological disorders. As the pathology develops, they may experience the following complications:
- cardiomyopathy;
- formation of nodules on the skin (granulomatosis);
- anemia.
In addition, patients have a sharp decrease in immunity. Sick oftensuffer from bacterial and fungal pathologies that are severe in them.
Diagnosis
How to identify this disease? The most accurate diagnostic method is a special blood test for the phenotyping of red blood cells. This study detects the presence of the Kell group protein in red blood cells. 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, serrated erythrocytes - acanthocytes are found.
Assign an MRI of the brain. People with the McLeod phenotype usually have reduced frontal lobes. There are changes in the subcortical nuclei of the brain.
It is also necessary to conduct a neurological examination of the patient. Patients usually show weakness in tendon reflexes.
Treatment
Currently there are no specific treatments for McLeod's syndrome. It is possible to carry out only symptomatic therapy, which will somewhat improve the patient's condition. The following groups of drugs are prescribed:
- anticonvulsants: Finlepsin, Sodium Valproate, Phenazepam, Diazepam;
- atypical antipsychotics: Rispolept, Eglonil, Quetiapine, Olanzapine.
- nootropic drugs (for dementia): Piracetam, Cerebrolysin, Vinpocetine, Phenibut, Actovegin.
These drugs cannot completely stop the manifestations of the disease. However, they reduce unpleasant symptoms and improve the patient's quality of life.
Forecast
If we talk about the possibility of a complete cure, then the prognosis is unfavorable. Modern medicine cannot influence 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 not pronounced, then the MacLeod phenotype may not affect life expectancy in any way.
Prevention
Specific prevention of McLeod's syndrome has not been developed. Such a pathology cannot be detected by prenatal diagnosis. A couple planning to have a child should seek the advice of a geneticist. This is especially important if a man or woman has a history of the disease in their family.
