Hereditary Disease Epidemiology Study as the Basis for Pharmacotherapy Need Determination among Newborns

Authors

  • Inna N. Sorokina, Svetlana V. Vinoglyadova , Natalia A. Rudyh, Irina N. Bezmenova , Irina N. Verzilina and Valentina S. Orlova

Keywords:

Hereditary Diseases, Metabolism, Screening, Phenylketonuria, Cystic Fibrosis, Congenital Hypothyroidism

Abstract

According to the screening data of newborns in the Belgorod region (2006 - 2013) the article determined the frequencies of
hereditary metabolic diseases in order to establish the need for pharmacotherapy. The frequency of phenylketonuria (PKU)
among newborns made 1:7831, cystic fibrosis (MV) - 1: 12103, congenital hypothyroidism (CH) - 1:4930, adrenogenital
syndrome (AGS) - 1:13313, galactosemia (GAL) - 1:33284. There are 58 children with hereditary metabolic diseases and
the need of pharmacotherapy in the Belgorod region (2006 - 2013).

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Published

19191919-August08-2323

Issue

Vol. 46 No. 4 (2019)

Section

Articles