Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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A case of cystinuria with a heterozygous SLC3A1 mutation presenting with recurrent multiple renal stones in a 14-year-old boy

  • Hye Won Cho (Department of Pediatrics, Korea University Ansan Hospital) ;
  • Min Hwa Son (Department of Pediatrics, Korea University Ansan Hospital) ;
  • Hyung Eun Yim (Department of Pediatrics, Korea University Ansan Hospital)
  • Received : 2023.09.11
  • Accepted : 2023.10.16
  • Published : 2023.12.31
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Abstract

Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine. Most patients develop cystine stones throughout their lifetime. Recurrent renal stones need to be extracted by repeated urologic interventions. Treatment options of cystinuria for preventing stone recurrence are limited and poorly tolerated. In this study, we report a pediatric case of cystinuria with a heterozygous SLC3A1 mutation diagnosed by stone analysis, measurement of urine cystine excretion, and genetic analysis. There were recurrent renal stones despite repetitive shock wave lithotripsy and retrograde intrarenal surgery. However, the rate of stone formation seemed to be slower after D-penicillamine was added into adequate hydration and urinary alkalinization.

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References

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