Lesch-Nyhan syndrome: causes, prognosis and treatment
There is a huge amount of hereditary diseases. But if some of them do not lead to serious complications, and a person can live a normal life, then there are those that are fraught with serious consequences. We will talk about one of these diseases. What is Lesch-Nyhan syndrome? What are the consequences of pathology? How is the treatment carried out? What are the predictions for these patients? Answers to these questions are presented in the article.
This inherited pathology is associated with metabolic disorders, which are based on increased uric acid production, neuropsychiatric disorders and behavioral abnormalities. The tendency to self-harm, obsessive aggressiveness in combination with mental retardation - all this is Lesch-Nyhan syndrome.
This disease is rarely diagnosed. The first description is found in the XVIII century, but only in 1964, student M.Lesh, together with the teacher U. Nihan, described him, thereby perpetuating his surnames.
Causes of disease
Pathology is provoked by impaired metabolic processes of purine nucleotides. It is called hereditary deficiency of the enzyme GFRT (hypoxanthine-guanine phosphoribosyltransferase). This reason for the development of Lesch-Nyhan syndrome leads to the decomposition of purines and excretion in the form of uric acid.
The human body tries to neutralize the negative impact and accelerates the synthesis of purine bases, which begins to exceed the process of their decomposition, which leads to overproduction of uric acid.
It begins to crystallize in various organs and tissues, getting into the joint cavity, provokes inflammation and gouty arthritis. The kidneys in response accelerate the excretion of uric acid, which ends with the formation of urate formations. Sand is formed, gradually turning into stones that are able to block the excretion of urine.
Lesch-Nyhan syndrome: the type of inheritance
The fair sex does not have this ailment. But they are carriers of the gene that causes the development of pathology.
The frequency of birth of children with this syndrome is unknown, since there are various variations in the manifestation of Lesch-Nyhan syndrome.
Manifestations of pathology are caused by genetic disorder. But they can be divided into several groups.
- Symptoms of the nervous system:
- frequent convulsions of individual muscle groups;
- muscle tone is constantly elevated. Often children with such manifestations are mistakenly diagnosed with cerebral palsy. In terms of their external manifestations, the diseases are similar;
- involuntary twitching of the limbs;
- a child with Lesch-Nykhan syndrome lags behind peers in their development (for example, it starts walking too late);
- there is vomiting for no apparent reason;
- speech becomes slurred;
- epileptic seizures may occur;
- there is mental retardation;
- Lesch-Nyhan syndrome (photos of patients with this diagnosis are presented in the article) may manifest as paralysis of the limbs.
2. Metabolic disorders manifest themselves:
- constant thirst and excretion of large amounts of urine;
- detection during examination of kidney stones;
- the presence of an inflammatory process in the joints;
- accumulation of uric acid in the ear lobes;
- the presence of orange crystals in the urine.
3. Deviations in behavior:
- The child is restless.
- Constantly observed mood changes.
- Mostly aggressive.
- After teething, the child bites itself. Bite marks are found on the lips, hands and feet.
To all the above symptoms, you can add growth retardation.
Types of syndrome
Classification of pathology is carried out taking into account the degree of enzyme activity. The classic variety is diagnosed if the enzyme activity of the GFRT is absent.
If partial deficiency of the enzyme is observed, then symptoms from the nervous system are more pronounced.
With a lack of more than 8% of normal indicators, mental abilities almost do not suffer, there are severe manifestations of gout.
There are erased variants of pathology for which self-aggression is not characteristic. At the same time revealed muscular dystonia.
Diagnosis of the disease
The diagnosis is made on the basis of some clinical manifestations:
- dysfunction of the nervous system;
- behavioral abnormalities;
- high concentration of uric acid.
Recognizing pathology at a very early stage of development is quite difficult. After all, symptoms are not immediately observed. Biochemical studies are needed to diagnose the disease, which will show:
Hematologic tests are prescribed as:
External examination of the patient is carried out in order to detect characteristic lesions on the body. Even at the doctor the patient can behave aggressively, not only in relation to himself, but also to others.
To finally make a diagnosis, it is necessary to hold:
- Urine and blood test.
- Ultrasound of the kidneys.
- Genetic research. This is necessary to determine the level of GFRT and recognition of gene mutations.
After the diagnosis has been clarified, therapy is prescribed that will help improve the patient’s quality of life.
It is important for the purpose of treatment to make an accurate diagnosis. In some pathologies, self-injury is also characteristic. But Lesch-Nykhan syndrome is manifested by stinging fingers, lips and oral mucosa.
Self-harm is accompanied by disorders of the nervous system and hyperuricemia. It is necessary to distinguish the disease from cerebral palsy.On the basis of the manifestation of the differential diagnosis allows to distinguish the syndrome from other pathologies.
The determining role is played by genetic research.
Lesha-Nyhan syndrome treatment
After diagnosis, they resort to therapy. Some of its types are described below.
It is necessary to reduce the level of uric acid. Regardless of the causes of Lesch-Nyhan syndrome, the following drugs are prescribed:
- "Allopurinol". Daily dosage is 100-300 mg. Treatment begins with 100 mg and gradually increases. For serious disorders in the kidneys and liver, the drug is not recommended.
- "Probenitsid". Approved for use in patients with liver and kidney problems. Appointed 2 times a day, 250 mg. After a week of treatment, the dosage is increased to 500 mg. The drug is not prescribed to children under 2 years, in the presence of kidney stones, allergic reactions, pathologies of the blood.
Symptomatic treatment of neurological problems. The choice of drug is based on the manifestations. Preparations "Baclofen" and "Diazepam" eliminate seizures, reduce anxiety of the patient, reduce the manifestation of movement disorders.The initial dosage is 15 mg per day, gradually taking up to 10 mg (2-3 times a day). "Diazepam" is not prescribed in the presence of epilepsy, glaucoma, ataxia, pathological muscle fatigue.
If kidney stones are found, surgery may be necessary.
Reception of mixtures of salts is shown to maintain urine pH at 7.
Drug treatment is combined with a besurinovoy diet. The patient should drink plenty of water.
To eliminate depressive states, Alprazolam and other drugs are prescribed that stabilize the emotional state. After taking them, the feeling of fear is reduced, mood swings are not so pronounced. The initial dosage is 0.1-0.2 mg 2-3 times a day. A week later, the dose can be increased to 6 mg per day. The duration of treatment is determined by the doctor (at least 5 days, and a maximum of 3 months).
Comprehensive treatment necessarily includes taking vitamin complexes containing microelements and vitamins of group B, C, A, folic acid.
In the presence of the syndrome, physiotherapeutic treatment provides significant assistance. The methods applied are as follows:
- Healing baths.
- Physiobalneotherapy.Allows you to prevent gout attacks.
- Mud applications. Remove the inflammatory process.
- To prevent the formation of stones, it is necessary to take mineral water with an alkaline environment.
Treatment of the disease is recommended in the hospital.
In the complex therapy, you can use recipes of folk healers. The tips are as follows:
- During the day, drink plenty of fluids, stick to a besurin-free diet.
- Cooked soups from peas, lentils, beans.
- In the diet should be present porridge: rice, buckwheat, barley and millet.
- To prevent gout attacks use raspberries, corn, carrots, pistachios.
- The patient's menu should include products rich in copper: rye bread, egg yolks, nuts, kefir, spinach, asparagus.
- To remove the salts, decoctions of celery and parsley are suitable: take 100 grams of raw materials each, pour 0.5 liters of water, boil for 5 minutes. Insist and give to the patient during the day, adding lemon juice and honey to the composition.
- You can buy 1 kg of honey and raisins. In the morning on an empty stomach to eat a handful of raisins. Then 2 hours is nothing. And the next day, take a spoonful of honey and do not eat again for 2 hours.
The use of traditional medicine only will not bring positive results in treatment. Before using any folk remedies, you should consult with your doctor, because some herbs may not be combined with medicines.
Lesch-Nykhan syndrome: prognosis and consequences
The life expectancy of such patients does not exceed 40 years, rarely one of them lives to 50. As a rule, patients die from the development of aspiration pneumonia or from renal failure. There are cases when the patient died suddenly for unknown reasons.
With this syndrome may develop dysphagia. Complications of calculous pyelonephritis can provoke a lethal outcome.
Specific prevention of the disease does not exist. If there are hereditary pathologies in the family before planning pregnancy, it is necessary to make an appointment for a consultation with a geneticist.