Sphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach

Background: Molecular biology has recently added new insights into the comprehension of the physiopathology of the medullary sponge kidney disease (MSK), a rare kidney malformation featuring nephrocalcinosis and recurrent renal stones. Pathogenesis and metabolic alterations associated to this disorder have been only partially elucidated. Methods: Plasma and urine samples were collected from 15 MSK patients and 15 controls affected by idiopathic...