Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder

• Main Authors: Douglas Ralph (Author), Rina Allawh (Author), Ian F. Terry (Author), Sharon F. Terry (Author), Jouni Uitto (Author), Qiao-Li Li (Author)
• Format: Book
• Published: Wolters Kluwer Health, 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract. Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and cardiovascular system, kidney stones were report...