Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).

ABSTRACT:

Purpose

Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a membrane transporter. The natural history of GACI survivors has not been established in a prospective fashion.

Methods

We performed deep phenotyping of 20 GACI survivors.

Results

Sixteen of 20 subjects presented with arterial calcifications, but only 5 had residual involvement at the time of evaluation. Individuals with ENPP1 deficiency either had hypophosphatemic rickets or were predicted to develop it by 14 years of age; 14/16 had elevated intact FGF23 levels (iFGF23). Blood phosphate levels correlated inversely with

SUBMITTER: Ferreira CR 

PROVIDER: S-EPMC7867608 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature