ABCC6 Deficiency Promotes Development of Randall Plaque
Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. Researchers aim to determine the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models.st post.