A rational approach to the use of sophisticated genetic analyses of pediatric stone disease.
expert_opinion · Level V
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- Record sourced from PubMed, PMID 29291816.
- Also identified by DOI 10.1016/j.kint.2017.08.023.
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Abstract
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.
Medical subject headings
- Genetic Testing
- Nephrolithiasis