Niemann-Pick Disease: Seven Questions about it
https://doi.org/10.15690/vsp.v22i6.2702
Abstract
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes.
About the Authors
Nato D. Vashakmadze
Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Nato D. Vashakmadze — lecturing for pharmaceutical companies Takeda, Sanofi Aventis Group, Biomarin, Nanolek, Chiesi pharmaceuticals, Nutricia, AstraZeneca
Nataliya V. Zhurkova
Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Nataliya V. Zhurkova — lecturing for pharmaceutical companies Takeda, Sanofi Aventis Group, AstraZeneca, Chiesi pharmaceuticals, Nutricia
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For citations:
Vashakmadze N.D., Zhurkova N.V. Niemann-Pick Disease: Seven Questions about it. Current Pediatrics. 2023;22(6):572-576. (In Russ.) https://doi.org/10.15690/vsp.v22i6.2702
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