Combination of two rare genetically determinated diseases, associated with poor prognosis, in a 2-year-old child
https://doi.org/10.18705/2782-3806-2022-2-2-129-136
Abstract
This article presents the case of a combination of two genetically determined diseases in one early age patient: long QT syndrome type 1 and mucopolysaccharidosis type IIIA.
Keywords
Glycosaminoglycans,
KSNQ1,
Long QT syndrome,
Lysosomal storage diseases,
Mucopolysaccharidosis,
Orphan diseases,
SGSH
Supporting agencies: Grant from the Ministry of Science and Higher Education of the Russian Federation. Grant Agreement no. 075-15- 2020-901
About the Authors
E. S. Sivushchina
Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Elizaveta S. Sivushchina, laboratory researcher
Federal State Budgetary Institution "V. A. Almazov National Medical Research Center", World-class Scientific Center "Center for Personalized Medicine"
197341
Akkuratova str., 2
Saint-Petersburg
A. S. Myravyev
Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Alexey S. Muravyev, laboratory researcher
Federal State Budgetary Institution "V. A. Almazov National Medical Research Center", World-class Scientific Center "Center for Personalized Medicine"
NIL of molecular and cellular modeling and gene therapy
Saint-Petersburg
T. S. Kovalchuk
Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Tatiana S. Kovalchuk, Junior Researcher, Pediatric Cardiologist
Federal State Budgetary Institution "V. A. Almazov National Medical Research Center", World-class Scientific Center "Center for Personalized Medicine"
Research of unknown, rare and genetically determined diseases
Department of Pediatric Cardiology and Medical Rehabilitation
Saint-Petersburg
T. L. Vershinina
Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Tatiana L. Vershinina, Head, pediatric cardiologist of the highest category
Federal State Budgetary Institution "V. A. Almazov National Medical Research Center", World-class Scientific Center "Center for Personalized Medicine"
Department of Pediatric Cardiology and Medical Rehabilitation
Saint-Petersburg
A. A. Kostareva
Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Anna A. Kostareva, MD, Director, Associate Professor
Federal State Budgetary Institution "V. A. Almazov National Medical Research Center", World-class Scientific Center "Center for Personalized Medicine"
Institute of Molecular Biology and Genetics
Institute of Medical Education
Department of Internal Diseases
Saint-Petersburg
E. S. Vasichkina
Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Elena S. Vasichkina, MD, Supervisor, Supervisor, Professor
Federal State Budgetary Institution "V. A. Almazov National Medical Research Center", World-class Scientific Center "Center for Personalized Medicine"
SIC of unknown, rare and genetically determined diseases
Department of Pediatric Cardiology and Medical Rehabilitation
Institute of Medical Education
Faculty of Medicine
Department of Children's Diseases
Saint-Petersburg
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Review
For citations:
Sivushchina E.S., Myravyev A.S., Kovalchuk T.S., Vershinina T.L., Kostareva A.A., Vasichkina E.S. Combination of two rare genetically determinated diseases, associated with poor prognosis, in a 2-year-old child. Russian Journal for Personalized Medicine. 2022;2(2):129-136. (In Russ.) https://doi.org/10.18705/2782-3806-2022-2-2-129-136
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