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Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications

UMR S 1155 and Physiology Unit, AP-HP, Hôpital Tenon, Sorbonne Université and INSERM, F-75020 Paris, France
PXE Consultation Center, MAGEC Reference Center for Rare Skin Diseases, Angers University Hospital, MITOVASC Institute, UMR CNRS 6015 INSERM U1083 Angers University, 49000 Angers, France
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(24), 6353;
Received: 19 November 2019 / Revised: 9 December 2019 / Accepted: 11 December 2019 / Published: 17 December 2019
Pseudoxanthoma elasticum is a rare disease mainly due to ABCC6 gene mutations and characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in skin, cardiovascular and retinal calcifications. It has been recently described that pyrophosphate (a calcification inhibitor) deficiency could be the main cause of ectopic calcifications in this disease and in other genetic disorders associated to mutations of ENPP1 or CD73. Patients affected by Pseudoxanthoma Elasticum seem also prone to develop kidney stones originating from papillary calcifications named Randall’s plaque, and to a lesser extent may be affected by nephrocalcinosis. In this narrative review, we summarize some recent discoveries relative to the pathophysiology of this mendelian disease responsible for both cardiovascular and renal papillary calcifications, and we discuss the potential implications of pyrophosphate deficiency as a promoter of vascular calcifications in kidney stone formers and in patients affected by chronic kidney disease. View Full-Text
Keywords: pseudoxanthoma elasticum; pyrophosphate; kidney; Randall’s plaque pseudoxanthoma elasticum; pyrophosphate; kidney; Randall’s plaque
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Letavernier, E.; Bouderlique, E.; Zaworski, J.; Martin, L.; Daudon, M. Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications. Int. J. Mol. Sci. 2019, 20, 6353.

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