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Register of patients with phenylketonuria and other types of hyperphenylalaninemia in the Russian Federation: 2021
https://doi.org/10.25557/2073-7998.2022.03.3-49
Abstract
In 2016, the Research Centre for Medical Genetics together with the professional non-profit organization Association of Medical Geneticists initiated the project «Audit of medical care for patients with orphan diseases». JSC «Aston Consulting» was chosen as a technical operator, which has extensive experience in creating and maintaining clinical databases. JSC «Aston Consulting» has a long-term partnership with the Association of Medical Genetics and provides technical support from the very beginning of the project, and also has the rights of an exclusive supplier of analytical reports based on the Audit data. The project has been actively expanded and currently includes patients suffering from phenylketonuria, mucopolysaccharidoses, Niemann-Pick disease, Fabry disease, Pompe disease, spinal muscular atrophy, Duchenne myodystrophy, familial Mediterranean fever and other hereditary orphan diseases. As a result of the work of a multidisciplinary team a unique database of patients with hereditary orphan diseases is being formed. The database has a great scientific and practical importance, as it allows to summarize the available data on the prevalence of hereditary diseases, the effectiveness of diagnostics and treatment of patients. The first pilot program was the «Audit of newborn screening and medical care for patients with phenylketonuria and other types of hyperphenylalaninemia», which resulted in the «Registry of patients with phenylketonuria and other types of hyperphenylalaninemia in the Russian Federation: 2021» published in this issue.
About the Authors
E. A. Shestopalova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Kh. F. Aksyanova
Nizhny Novgorod Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
I. P. Alferova
Chelyabinsk City Clinical Hospital No. 1
Russian Federation
Russian Federation
M. A. Amelina
Rostov State Medical University of the Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
L. P. Andreeva
Saratov Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
Z. I. Vafina
Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan
Russian Federation
Russian Federation
S. V. Voronin
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. A. Golikina
Research Institute - Regional Clinical Hospital No. 1 named after. prof. S.V. Ochapovsky
Russian Federation
Russian Federation
T. Yu. Elizarieva
Krasnoyarsk Regional Medical Genetic Center
Russian Federation
Russian Federation
L. N. Kolbasin
Center for Diagnostics and Cardiovascular Surgery
Russian Federation
Russian Federation
S. E. Kostritsov
Perinatal Center ща еру Republican Clinical Hospital named after N.A. Semashko
Russian Federation
Russian Federation
O. V. Kruglova
Samara Regional Clinical Hospital named after V.D. Seredavin
Russian Federation
Russian Federation
V. I. Kurilova
Perm Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
L. V. Lyazina
Diagnostic Center (Medical Genetic)
Russian Federation
Russian Federation
T. V. Lukyanova
Clinical Center for Family Health and Reproduction
Russian Federation
Russian Federation
A. K. Mardanova
Republican Medical Genetic Center
Russian Federation
Russian Federation
N. V. Nikitina
Clinical Diagnostic Center “Protection of Maternal and Child Health”
Russian Federation
Russian Federation
A. M. Nikonov
The diagnostic center of the Altai Krai
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. V. Potapova
Irkutsk regional clinical hospital
Russian Federation
Russian Federation
E. S. Tyumentseva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. V. Fedotova
Voronezh Regional Clinical Hospital No. 1
Russian Federation
Russian Federation
E. E. Shipovskova
Volgograd regional clinical hospital №1
Russian Federation
Russian Federation
S. I. Kutsev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Review
For citations:
Shestopalova E.A., Aksyanova Kh.F., Alferova I.P., Amelina M.A., Andreeva L.P., Vafina Z.I., Voronin S.V., Golikina T.A., Elizarieva T.Yu., Kolbasin L.N., Kostritsov S.E., Kruglova O.V., Kurilova V.I., Lyazina L.V., Lukyanova T.V., Mardanova A.K., Nikitina N.V., Nikonov A.M., Polyakov A.V., Potapova I.V., Tyumentseva E.S., Fedotova T.V., Shipovskova E.E., Kutsev S.I. Register of patients with phenylketonuria and other types of hyperphenylalaninemia in the Russian Federation: 2021. Medical Genetics. 2022;21(3):3-49. (In Russ.) https://doi.org/10.25557/2073-7998.2022.03.3-49
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