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Generalized arterial calcification of infancy due to mutations of the ENPP1 and ABCC6 genes: phenotype features, bisphosphonate therapy
https://doi.org/10.21508/1027-4065-2024-69-3-29-36
Abstract
The literature review presents current concepts of the pathogenesis, features of phenotype, course, and prognosis of orphan disease — generalized arterial calcification of infancy, type 1 due to mutation of the ENPP1 gene and type 2 due to mutation in the ABCC6 gene. The published results of clinical observations confirmed the effectiveness of bisphosphonate therapy in pediatric patients with generalized arterial calcification of infancy type 2. The enzyme replacement therapy with recombinant ENPP1, which can prevent arterial calcification and intima proliferation, reduce hypertension and mortality in an experiment on mouse models of ENPP1 deficiency, is promising.
About the Authors
N. D. Savenkova
Saint Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
Zh. G. Leviashvili
Saint Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
V. N. Barsukova
Saint Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
O. V. Lyubimova
Saint Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
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Review
For citations:
Savenkova N.D., Leviashvili Zh.G., Barsukova V.N., Lyubimova O.V. Generalized arterial calcification of infancy due to mutations of the ENPP1 and ABCC6 genes: phenotype features, bisphosphonate therapy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2024;69(3):29-36. (In Russ.) https://doi.org/10.21508/1027-4065-2024-69-3-29-36
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