ABCC6 Deficiency Promotes Development of Randall Plaque.

ABSTRACT:

Background

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.

Methods

We conducted a retrospective study in a large cohort of patients with PXE and analyzed urine samples and kidneys from Abcc6^-/- mice at various ages. We used Yasue staining, scanning electron microscopy, electron microscopy coupled to electron energy loss spectroscopy, and Fourier transform infrared microspectros

SUBMITTER: Letavernier E 

PROVIDER: S-EPMC6115671 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature