Child Kidney Dis.  2023 Dec;27(2):127-132. 10.3339/ckd.23.014.

A case of cystinuria with a heterozygous SLC3A1 mutation presenting with recurrent multiple renal stones in a 14-year-old boy

• Cho HW
• Son MH
• Yim HE

• KMID: 2549745
• DOI: http://doi.org/10.3339/ckd.23.014

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.

Keyword

Case reports; Cystinuria; SLC3A1 protein; Urolithiasis

Figure

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  Fig. 1. Renal ultrasonography and abdominal computed tomography showing multiple kidney stones. (A) Right kidney. (B) Left kidney. (C) Multiple hyperechoic stones in bilateral pelvicalyceal system (arrows). The largest sizes of renal stones on right kidney and left kidney were 1.53 cm and 0.62 cm, respectively.

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  Fig. 2. Electropherogram showing the heterozygous SLC3A1 gene mutation.

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  Fig. 3. Clinical course of the patient over 2 years of treatment. RIRS, retrograde intrarenal surgery; ESWL, extracorporeal shock wave lithotripsy.

Reference

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