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Determination of the etiology of pediatric urinary stone disease by multigene panel and metabolic screening evaluation

Journal of Pediatric Urology Apr 04, 2021

Ziyadov E, Bisgin A, Deger M, et al. - Since urinary tract stone disease (UTSD) is reported to be a genetically heterogeneous disease, researchers herein investigated the multigene panel and metabolic evaluation together. They included a total of 48 pediatric patients (mean age: 60 ± 50 (12-192) months) who underwent surgery for UTSD and assessed the retrieved blood and urine samples, and performed metabolic evaluation. In addition, they collected 2 cc peripheral blood samples from selected patients to conduct DNA isolation. The next-generation sequencing studies conducted with the multigene panel led to identification of a total of 21 clinically significant variants in eight different genes with the bioinformatics analysis on the data on which quality control was performed. For the 21 variants, the weighted distribution was as follows according to the genes: five variants (23.8%) in the SLC3A1 gene, four (19%) in SLC6A20, and three (14.3%) in SLC7A9 and SLC26A1. Outcomes overall highlight the relevance of determining the underlying metabolic and genetic risk factors in pediatric cases with UTSD, in order to avert recurrence and apply the most effective treatment.

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