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. We determined the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models. s The frequency of kidney stones and probably,Randallplaqueis extremely highinpatientswith PXE, and Abcc62/2mice provide a new and usefulmodel in which to study Randall plaque formation. Our findings also suggest that pyrophosphate administration should be evaluated for the prevention of Randall plaque and kidney stones.



AUTORE: Emmanuel Letavernier et al