The Russian Ministry of Health has added two new orphan diseases to its list, increasing the total to 295.
The new diseases added include eosinophilic esophagitis, a chronic condition marked by inflammation in the esophagus walls. This condition occurs due to the accumulation of special immune cells – eosinophils – in the mucous membrane. Patients experience difficulty swallowing solid food, pain behind the breastbone, and periodic bouts of vomiting.
Treatment includes a special diet in combination with local steroid drugs and drugs that suppress the production of gastric acid. Statistics indicate that the condition affects approximately 10 out of every 10,000 children, while among adults, it affects about 4.5 out of every 10,000.
The second added disease – epileptic encephalopathy associated with the STXBP1 gene, is a complex neurological disorder. This gene is crucial for signal transmission between nerve cells, and its mutations can cause severe developmental disorders in the nervous system. The disease causes frequent seizures that don’t respond well to regular antiepileptic treatment and leads to delays in psychomotor development.
To combat the symptoms, a comprehensive approach is used, including anticonvulsants, drugs to improve cerebral circulation, sedatives and nootropic drugs. This pathology is especially often diagnosed in children, starting from the neonatal period.
