Generalized arterial calcification of infancy due to mutations of the ENPP1 and ABCC6 genes: phenotype features, bisphosphonate therapy

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.