2.1.4. Renal Manifestations

Renal involvement in PXE has received little attention in the literature until recently. Few cases of kidney stones in PXE patients have been described, whereas classic nephrocalcinosis has only been reported in sporadic cases [41–43]. More recent data suggested that nephrolithiasis was an unrecognized and prevalent feature of PXE [44]. The first in depth analysis of renal manifestations in a cohort of 113 French PXE patients showed a history of kidney stones in 40% of patients, which is much higher than the general population. Computed tomography scans revealed evidence of significant papillary calcifications (Randall's plaques) [45,46].

Remarkably, despite the presence of mineralized elastic fibers in pulmonary tissues, there is no lung phenotype associated with PXE [47,48].
