Diagnostic criteria for identification of MPS type I in routine pediatric clinical practice. Data of the pilot project


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Background. The results of a pilot project on the formation of criteria for the detection of mucopolysaccharidosis type I (MPS-I) in the routine pediatric clinical practice are presented. Methods. The integration of the program of molecular and genetic screening of the disease in the territory of the Russian Federation, as well as screening of medical records of patients with established diagnosis and suspected MPS-I, contribute to the formation of criteria. Results. As a result of the study, it was possible to group the most important signs allowing to suspect the MPS-I in a particular patient. Conclusions. Using a scoring system for each group of signs and symptoms, it is possible to objectively assess the likelihood of diagnosing MPS-I in patients at an early age.

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作者简介

N. Vashakmadze

National Medical Research Center for Children's Health; N.I. Pirogov Russian National Research Medical University

Email: nato-nato@yandex.ru
PhD, Leading Researcher at the Laboratory of Rare Hereditary Diseases; Associate Professor at the Department of Faculty Pediatrics of the Pediatric Faculty

L. Namazova-Baranova

National Medical Research Center for Children's Health; N.I. Pirogov Russian National Research Medical University

A. Gevorkyan

National Medical Research Center for Children's Health; N.I. Pirogov Russian National Research Medical University

S. Demura

I.M. Sechenov First Moscow State Medical University (Sechenov University)

L. Kuzenkova

National Medical Research Center for Children's Health

T. Podkletnova

National Medical Research Center for Children's Health

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