A rational approach to the use of sophisticated genetic analyses of pediatric stone disease

Langman, C. B.

Kidney Int. 2018 Jan 3; 93(1):15-18


Kidney stone disease in the childhood years has a genetic underpinning in some. The relationships between clinical phenotype, medical evaluation, and genetic etiologies were investigated using whole-exome sequencing by the Hildebrandt laboratory. At this time, a genetic evaluation of pediatric nephrolithiasis should be reserved for specific circumstances when clinical uncertainty of the reason for the presence of the stone or therapy is not satisfactory.

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