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Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy
https://doi.org/10.21508/1027-4065-2023-68-5-73-77
Abstract
The article presents a clinical case of a child with a perinatal form of Niemann–Pick disease type C. The clinical manifestations were cholestasis syndrome, cytolysis, hepatosplenomegaly, muscle hypotension. Differential diagnostics was performed with toxic, cytomegalovirus, viral hepatitis, alpha-1-antitrypsin deficiency, autoimmune liver diseases, aminoacidopathies, Alajille syndrome. After Cholestasis panel genetic testing, a mutation in the NPC1 gene was detected. Biochemical diagnostics showed an increase in the concentration of lysosphingomyelin-509 and increased activity of chitotriosidase in dry blood spots. According to the Sanger sequencing of the NPC1 gene, a nucleotide substitution of chr18:21131617G>A was detected in a child in a homozygous state. According to vital indications (“off-label use”), the patient was prescribed substrate-reducing therapy with Miglustat. Relief of cholestasis syndrome, minimal cytolysis syndrome after administering the drug for 1 month may indicate good tolerability and effectiveness of therapy.
About the Authors
R. F. Rakhmaeva
Kazan State Medical University;
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
G. I. Sageeva
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
N. A. Artykova
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
N. R. Mingacheva
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
N. M. Danilaeva
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
A. A. Kamalova
Kazan State Medical University;
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
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For citations:
Rakhmaeva R.F., Sageeva G.I., Artykova N.A., Mingacheva N.R., Danilaeva N.M., Kamalova A.A. Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(5):73-77. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-5-73-77
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