Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach.

ABSTRACT: It is very unusual to see evidence of arterial calcification in infants and children, and when detected, genetic disorders of calcium metabolism should be suspected. Generalized arterial calcification of infancy (GACI) is a hereditary disease, which is characterized by severe arterial calcification of medium sized arteries, mostly involving the media with marked intimal proliferation and ectopic mineralization of the extravascular tissues. It is caused by inactivating variants in genes encoding either ENPP1, in a majority of cases (70-75%), or ABCC6, in a minority (9-10%). Despite similar histologic appearances between ENPP1 and ABCC6 deficiencies, including arterial calcification, organ calcification, and cardiovascular calcification, mortality is higher in subjects carrying the ENPP1 ver

SUBMITTER: Kawai K 

PROVIDER: S-EPMC9167688 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature