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Abstract: PO1995

Genetic Testing in Children with Nephrolithiasis and Nephrocalcinosis

Session Information

Category: Pediatric Nephrology

  • 1700 Pediatric Nephrology


  • Gefen, Ashley M., Cohen Children's Medical Center, Queens, New York, United States
  • Sethna, Christine B., Cohen Children's Medical Center, Queens, New York, United States
  • Cil, Onur, University of California San Francisco School of Medicine, San Francisco, California, United States
  • Perwad, Farzana, University of California San Francisco School of Medicine, San Francisco, California, United States
  • Schoettler, Meg, UCSF Benioff Children's Hospital, San Francisco, California, United States
  • Amlie-Wolf, Louise, Alfred I DuPont Hospital for Children, Wilmington, Delaware, United States
  • Ellison, Jonathan S., Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Feig, Daniel, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, United States
  • Zaritsky, Joshua, Saint Christopher's Hospital for Children, Philadelphia, Pennsylvania, United States

Diagnosing genetic kidney disease has become more accessible with the advent of low-cost and rapid genetic testing. The study objective was to determine the sensitivity of genetic testing in diagnosing kidney disease in children with nephrolithiasis (NL) and nephrocalcinosis (NC).


A retrospective multicenter study was conducted on children ≤21 years with NL/NC that underwent the Invitae sponsored NL panel. Next-generation sequencing evaluated 35 genes. The sensitivity of genetic testing was calculated. Logistic regression examined the association of clinical variables with genetic diagnosis.


Seventy-eight children from 5 centers were included (56 had isolated NL [iNL] and 22 had NC). Sensitivity of genetic testing was 31% (iNl 27%, NC 41%). Of those with genetic diagnoses (Figure 1), 25% had pathogenic mutations alone, 13% carried pathogenic mutations for recessive conditions, 13% carried a pathogenic mutation and variant of uncertain significance (VUS) in the same gene and 50% had VUS alone. Mutations were found in 25 genes, most commonly HOGA and SLC3A1 in iNL and SLC34A3 and CLDN19 in NC. Clinical features are shown in Figure 2. In multivariate analysis, subjects with hypercalciuria were less likely to have a genetic diagnosis (OR 0.35, 95% CI 0.13-0.95, p=0.04).


This study has demonstrated the utility of genetic testing, where explanatory genetic mutations were found in one-third of children with NL/NC. Genetic testing shows promise to improve clinical practice in this population.

Figure 1: Genetic diagnoses.

Figure 2: Subject characteristics.