Treatment of hereditary diseases

Treatment of hereditary diseases is very difficult. Until recently it was believed that they are incurable. However, the study of pathogenesis of hereditary diseases contributed to the improvement of methods of their treatment. Some success obtained in the treatment diet sharp reduction of phenylalanine patients with phenylketonuria. In patients on such a diet, improved mental and physical development, was held seizures, and other symptoms of the disease. Known for the curative effect of substitution therapy: insulin - with diabetes, the tireoidina - at hereditary hypothyreosis, etc. Encouraging results using drugs amino acids when myo, ACTH and prednisolone in gargoylism , etc., the Best indicators were registered in the cases of early detection and timely appointment of rational treatment.
Some hereditary anomalies - cleft lip and palate, congenital stenoses privratnika, polydactyly (Megaplast), syndactylia (fused fingers) - successfully treated surgically. Among hereditary diseases amenable to surgical methods of treatment include congenital malformations of the heart and large vessels.
In the prevention of hereditary diseases of the special role of medical-genetic consultations, the purpose of which is active detection of hereditary diseases and surveillance of patients with a genetic disease.
The importance of the study of genealogy and determining the type of inherited disease, detection heterozygous carriers, which contributes to the determination of whether the birth of a sick child. For detection of heterozygosity widely used biochemical methods of research. With the expansion of knowledge about the nature and pathology of hereditary diseases treatment and prevention will be more perfect.