What is Hunter syndrome

Depending on the severity of symptoms and the type of gene mutation, there are three forms of Hunter syndrome:

• mild - allows for normal life activity, the realization of mental potential in the professional field, in most cases the children of such people are born healthy;
• moderate - signs appear most often between the ages of 3 and 8 (in rare cases up to 13), intelligence is preserved, life expectancy can vary from 50 to 60 years;
• severe - the manifestation of symptoms begins at an earlier age (between 18 and 36 months), many organs and systems are affected, rapid progression, noticeable mental retardation, death occurs within 10-15 years.

Causes

The disease is transmitted hereditarily. The body of a person suffering from this deviation cannot produce a certain type of protein, which is reflected in its DNA sequence. For the disease to manifest itself in a girl, she must receive a defective gene from both parents. In the entire history of medicine, only two such cases have been described. Usually, female representatives can only be carriers of such a gene.

Symptoms

The spectrum of signs that is inherent in this deviation is quite wide. It includes both defects in appearance and deviations in mental development, the performance of various organs and systems. The most common are:

• variable degrees of mental retardation;
• muscle weakness;
• problems with speaking;
• ear infections, deafness;
• difficulty moving;
• abnormal heart valves;
• thick, rough skin;
• hoarse, low voice;
• abnormal bone thickening;
• short arms with thick, crooked fingers;
• enlarged spleen and liver;
• poor learning ability in childhood;
• short neck;
• rare teeth;
• large head, lips and tongue;
• slow development and growth;
• nodular rashes on the skin of the shoulders, upper back, thighs;
• colic, numbness and weakness in the upper limbs;
• aggressiveness;
• noisy breathing;
• cloudy cornea;
• appearance of “Mongolian spots” in the lumbar region;
• increased activity;
• carpal tunnel syndrome;
• rapid hair growth, thick eyebrows;
• chronic diarrhea, other bowel problems;
• coarse facial features;
• difficulty with respiratory activity, with pauses in breathing at night, the presence of sleep apnea;
• sometimes there are seizures.

Quite often, concomitant diseases are: frequent colds, acute respiratory viral infections, flu, tonsillitis, hypertrichosis, rhinitis, dysostosis, otitis, tracheitis, laryngitis, pneumonia, umbilical and inguinal hernias, kyphoscoliosis, hydrocele, osteoarthritis, hydrocephalus, cardiomyopathy, spastic paraplegia, atypical pigment retinitis and others.

Diagnostics

The primary diagnosis can be made by a pediatrician, but for confirmation, you need to make an appointment with a geneticist.

In addition to clinical signs, such tests can help to identify pathology and determine the degree of deviations in various body systems. research:

• urine and blood tests;
• identification of genealogical predispositions;
• molecular genetic tests;
• x-ray of the spine, skull and tubular bones;
• electrocardiogram;
• echoCG;
• ultrasound diagnostics of organs located in the abdominal cavity;
• magnetic resonance imaging of the brain;
• biopsy of myocardial tissue, liver and skin.

During pregnancy, women can undergo intrauterine prenatal testing for timely detection of the disease.

Treatment

Such a disease requires constant and comprehensive treatment. Therefore, consultations with a cardiologist, ophthalmologist, otolaryngologist, speech therapist, psychologist, psychiatrist, defectologist, pulmonologist, orthopedist, neurologist will be required. Patients need lifelong enzyme replacement therapy. In the world at the moment only one drug is registered for use by people with Hunter syndrome - Elaprase (idursulfase).

Supportive health improvement is also carried out with the help of:

• physical therapy;
• physiotherapy procedures (magnetic therapy, electrophoresis, laser puncture, paraffin therapy);
• use of a vitamin complex, hepatoprotectors, antioxidants, cytoprotectors.

At the early stages of detection of the pathological condition, a bone marrow transplant can relieve symptoms.

Prevention

In everyday life, it is necessary to try from childhood to bring the patient as close as possible to normal full-fledged communication with other people, receiving information that he can assimilate, developing skills and abilities. Despite poor health, people with a mild form of the disease can become full-fledged members of society, start a family and have children, and work.