Understanding Rare Kidney Stone Diseases: A Review

Rare kidney stone diseases typically present with nephrolithiasis or nephrocalcinosis in childhood or adolescence. Affected individuals might face kidney injury and even kidney failure related to associated complications. Screening blood and urine tests recommended for patients with nephrolithiasis and/or nephrocalcinosis help guide further evaluation, and the increased availability and decreased costs of genetic testing can facilitate the diagnosis of hereditary stone conditions. Genetic testing should be considered when there are clinical clues of an increased likelihood of an inherited condition such as consanguinity, nephrolithiasis in young children, nephrolithiasis in multiple family members, repeated episodes of nephrolithiasis, or kidney failure with nephrolithiasis or nephrocalcinosis. Adult and pediatric nephrologists and urologists should have a basic understanding of monogenic rare kidney stone diseases and their associated diagnoses, treatments, and complications. In many disorders, early detection allows for the initiation of tailored therapies that may alter the natural history of the disease, preserve kidney function, and modify extrarenal manifestations.