EVENT OF THE PRADER-WILLI SYNDROME IN THE CLINICAL PRАСТІСЕ OF PEDIATRICIAN

Abstract

Prader-Willi syndrome is a complex multisystem genetic disease that has an autosomal recessive type of inheritance. The basis of the development of this pathology is the change of the 15th chromosome (15q11-q13): the deletion of the parent copy of the imprinted portion of the proximal long shoulder segment of the 15th chromosome, rarely – the uniform maternal disomy of the 15th chromosome or the inactivation of the genetic material of the parental 15th chromosome. The syndrome has many specific clinical features: infantile muscle hypotonia, delayed physical development and mental retardation, hypogonadotropic hypogonadism, behavioral disorders, characteristic facial expressions, low growth and acromicriasis. Pathognomonic signs are hyperfage and progressive development of obesity. Early diagnosis of the disease already in the first year of life makes it possible to timely correct the metabolic and hormonal disorders and improve the outlook for each individual patient. To date, a scheme of diagnostic criteria has been developed (main, minimal and additional). To clarify the diagnosis, a genetic testing test, which includes a chromosomal analysis (molecular cytogenetic study, karyotyping), is performed successfully. Actual in this syndrome is the exclusion of all unfavorable factors in the prenatal period of child development, prenatal diagnosis, conducting of medical genetic counseling in order to prevent the birth of a child with hereditary illness. Since Prader-Willi syndrome may occur in completely healthy parents, for timely diagnosis, attention should be paid to prenatal diagnosis. For prenatal diagnosis of this syndrome, a method of fluorescence hybridization in situ (FISH) is used during chorionic villus or amniocentesis biopsy. The risk of the birth of a child with a PWV in a family where there is already one sick child depends on the mechanism of the occurrence of a genetic disease. Unfortunately, this disease is not always diagnosed on time, despite the diversity of diagnostic criteria. The issue of supporting hormonal therapy with a somatotropic hormone, which can prevent a number of complications characteristic of the syndrome, and improve the quality of life of children with Prader-Willі syndrome in the future remains insufficiently studied. Timely diagnosis of Prader-Willi syndrome has a significant impact on the health and quality of life of people with this pathology.