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<p>Pediatric nephrolithiasis is increasingly recognized as a multifactorial condition influenced by genetic, metabolic, and environmental factors. Regional data from India’s desert belt is limited. This study aimed to evaluate the metabolic, clinical, and genetic profiles of children with nephrolithiasis from northwestern India. A prospective observational study was conducted at a tertiary care center in Rajasthan from December 2021 to July 2024. Children under 18 years with radiologically confirmed nephrolithiasis underwent a comprehensive clinical and first-line metabolic evaluation. Second-line tests (stone analysis and whole-exome sequencing) were performed as indicated. Outcomes included prevalence of metabolic abnormalities, genetic findings and stone composition. Seventy-four children were included (median age 5.5 years [IQR 2.0–10.0]; 78% male). Common presentation was abdominal/flank pain (54%). A family history of nephrolithiasis was reported in 18.9% of cases. The median eGFR was 87.4 mL/min/1.73&#xa0;m². Hypercalciuria was present in 39/74 (52.7%), hyperuricosuria in 37/74 (50%), and hypocitraturia in 37/49 tested (75.5%) and hyperoxaluria in 8 of 49 tested (16.3%). Stone analysis was available in 24/74 (32%) cases; calcium oxalate (16/24, 66.7%) was the predominant type. WES was performed in 39/74 (52.7%); Pathogenic or likely pathogenic variants were identified in 11/39 (28.2%), while variants of uncertain significance were detected in 17/39 (43.6%). 17 (43.6%) known nephrolithiasis genes were identified. A cause of nephrolithiasis was established in 61 of 74 (82.4%). The most common etiologic categories was multifactorial nephrolithiasis (25; 33.8%). Pediatric nephrolithiasis in India’s desert belt is predominantly metabolic and multifactorial, with a substantial contribution from monogenic disorders. Hypercalciuria was the most frequent metabolic abnormality, multifactorial nephrolithiasis the most common etiologic category, and calcium oxalate the predominant stone composition. Genetic testing identified reportable variants in over half of the tested children.</p>

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Metabolic and genetic spectrum of pediatric nephrolithiasis: insights from high-prevalence desert belt in India

  • 期刊论文

  • 发表日期：

    2026年3月26日

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  • Darshan Rajatadri Rangaswamy,
  • Aliza Mittal,
  • Vivek Parihar,
  • Manish Pathak,
  • Gautam Choudhary,
  • Mithu Banerjee,
  • Arjun S Sandhu,
  • Kuldeep Singh

摘要

Pediatric nephrolithiasis is increasingly recognized as a multifactorial condition influenced by genetic, metabolic, and environmental factors. Regional data from India’s desert belt is limited. This study aimed to evaluate the metabolic, clinical, and genetic profiles of children with nephrolithiasis from northwestern India. A prospective observational study was conducted at a tertiary care center in Rajasthan from December 2021 to July 2024. Children under 18 years with radiologically confirmed nephrolithiasis underwent a comprehensive clinical and first-line metabolic evaluation. Second-line tests (stone analysis and whole-exome sequencing) were performed as indicated. Outcomes included prevalence of metabolic abnormalities, genetic findings and stone composition. Seventy-four children were included (median age 5.5 years [IQR 2.0–10.0]; 78% male). Common presentation was abdominal/flank pain (54%). A family history of nephrolithiasis was reported in 18.9% of cases. The median eGFR was 87.4 mL/min/1.73 m². Hypercalciuria was present in 39/74 (52.7%), hyperuricosuria in 37/74 (50%), and hypocitraturia in 37/49 tested (75.5%) and hyperoxaluria in 8 of 49 tested (16.3%). Stone analysis was available in 24/74 (32%) cases; calcium oxalate (16/24, 66.7%) was the predominant type. WES was performed in 39/74 (52.7%); Pathogenic or likely pathogenic variants were identified in 11/39 (28.2%), while variants of uncertain significance were detected in 17/39 (43.6%). 17 (43.6%) known nephrolithiasis genes were identified. A cause of nephrolithiasis was established in 61 of 74 (82.4%). The most common etiologic categories was multifactorial nephrolithiasis (25; 33.8%). Pediatric nephrolithiasis in India’s desert belt is predominantly metabolic and multifactorial, with a substantial contribution from monogenic disorders. Hypercalciuria was the most frequent metabolic abnormality, multifactorial nephrolithiasis the most common etiologic category, and calcium oxalate the predominant stone composition. Genetic testing identified reportable variants in over half of the tested children.