Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

ABSTRACT:

Background

This article presents the results of long-term observations and comparative analysis of genotype-phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome, evaluating the quality and span of their lives, as well as their ability to social adaptation.

Methods

We used electrophoresis of glycosaminoglycans of urine, determination of the activity of lysosomal enzymes in plasma, in dried blood spots according to the generally accepted method and DNA analysis.

Results

The clinical symptomatology of 228 patients with Hunter syndrome was characterized by growth retardation, lesions of the bronchopulmonary, cardiovascular, nervous systems, etc. Thirty-five patients had an attenuated form o

SUBMITTER: Semyachkina AN 

PROVIDER: S-EPMC7937197 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature