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Retrograde intrarenal surgery for nephrolithiasis in a 2-year-old boy with type 1 glycogen storage disease: a case

Bulent Onal1, Fatih Ozdemir, Sinharib Citgez

  • 1Department of Urology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey. bulonal@yahoo.com

Journal of Pediatric Urology
|December 21, 2011
PubMed

Insights

This report details the successful treatment of renal stones in a young boy with Glycogen Storage Disease Type 1 (GSD-1). It marks the first documented use of retrograde intrarenal surgery for this condition in a child.

Area of Science:

  • Pediatric Urology
  • Metabolic Disorders
  • Surgical Innovation

Background:

  • Glycogen Storage Disease Type 1 (GSD-1) is a rare inherited metabolic disorder.
  • Renal stones are a known complication in patients with GSD-1.
  • Treatment options for pediatric renal stones can be challenging, especially in patients with underlying metabolic conditions.

Observation:

  • A 2-year-old boy diagnosed with GSD-1 presented with renal stones.
  • The patient's complex medical history required careful consideration for treatment modality.

Findings:

  • Retrograde intrarenal surgery (RIRS) was successfully employed to treat the renal stones in this pediatric patient.
  • This represents the first reported case of RIRS utilization for renal stone management in a child with GSD-1.

Implications:

  • Retrograde intrarenal surgery may be a viable and effective treatment option for renal stones in pediatric patients with GSD-1.
  • This case expands the surgical armamentarium for managing urolithiasis in children with complex metabolic diseases.
  • Further research is warranted to evaluate the long-term efficacy and safety of RIRS in this specific patient population.

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