"By evaluating the variants with known clinical significance according to family history and clinical findings, we confirmed the diagnosis of the patients and clarified the genetic-clinical relationship. As a result, we showed the importance of next-generation sequencing in UTSD diagnosis and follow-up," Dr. Nebil Akdogan and colleagues of the University of Cukurova in Adana write in the Journal of Pediatric Urology.
UTSD is becoming more common in children, and genetic, metabolic and environmental factors are known to play a role in its development. Dr. Akdogan and colleagues investigated the etiology of UTSD in 48 children (mean age, 60 months; 60% male, 58% with a positive family history of UTSD) who underwent surgery for the condition.
They performed metabolic screening and designed a multigene panel to be used in next-generation-sequencing systems, consisting of 30 genes that may be associated with the disease.
Sequencing studies identified 21 clinically significant variants in 18 (38%) children, half of whom had a positive family history for UTSD.
For the 21 variants, the weighted distribution according to the genes was as follows: five variants (24%) in the SLC3A1 gene, four (19%) in SLC6A20, and three (14%) in SLC7A9 and SLC26A1.
Seven of the variants had been previously identified and associated with the disease, while the clinical significance of six of the variants was unknown; the remaining eight variants were novel and had not been previously identified but were deemed to be pathogenic in further analysis.
"Since the early diagnosis and treatment of UTSD significantly reduces morbidity, it is vital to identify metabolic or genetic changes that may predispose individuals to the disease," the researchers note in their article.
"Genetic profiling with a multigene panel created for UTSD from pediatric patients with suspected susceptibility can allow for timely interventions before the stone formation reaches surgical limits," they add.
"In cases where the etiology of the disease is to be investigated, the next-generation sequencing method can be successfully used to make a definitive diagnosis and plan treatment through an accurate bioinformatic analysis of the variants determined by genomic profiling with the DNA obtained from the patient's peripheral blood sample," they say.
Limitations of the study include small number of patients, the absence of patients from different geographies and races, and the single-center design, the team notes.
The study had no specific funding and the authors have declared no conflicts of interest.
SOURCE: https://bit.ly/3t15rkx Journal of Pediatric Urology, online March 31, 2021.
By Reuters Staff
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