Kidney stones (also known as urinary stones or nephrolithiasis) are highly prevalent,
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …

Kidney stones are mineral deposits in the renal calyces and pelvis that are found free or
attached to the renal papillae. They contain crystalline and organic components and are …

Genome-wide association studies (GWAS) have identified thousands of genetic variants
linked to the risk of human disease. However, GWAS have so far remained largely …

The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Kidney stone disease (nephrolithiasis) is a common problem that can be associated with
alterations in urinary solute composition including hypercalciuria. Studies suggest that the …

Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure
to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D …

Steroid-resistant nephrotic syndrome (SRNS) represents the second most frequent cause of
chronic kidney disease in the first three decades of life. It manifests histologically as focal …

The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic
cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or …

Background Whole-exome sequencing (WES) finds a CKD-related mutation in
approximately 20% of patients presenting with CKD before 25 years of age. Although …

Expanding epidemiologic and physiologic data suggest that urinary stone disease is best
conceptualized as a chronic metabolic condition punctuated by symptomatic, preventable …