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.
Kidney international. 2018 Jan [Epub]
Craig B Langman
Pediatric Kidney Diseases, Feinberg School of Medicine, Northwestern University, The Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA. Electronic address: .