A case of cystinuria with a heterozygous SLC3A1 mutation presenting with recurrent multiple renal stones in a 14-year-old boy
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (15)
- Servais A, "Cystinuria : clinical practice recommendation", Kidney Int, 99, pp.48~58 (2021)
- Sahota A, "Cystinuria: genetic aspects, mouse models, and a new approach to therapy", Urolithiasis, 47, pp.57~66 (2019)
- de Sanctis L, "Cystinuria phenotyping by oral lysine and arginine loading", Clin Nephrol, 56, pp.467~474 (2001)
- Knoll T, "Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up", Pediatr Nephrol, 20, pp.19~24 (2005)
- 정해도, "Large database study of urinary stone composition in South Korea: Korean Society of Endourology and Robotics (KSER) research series", Investigative and Clinical Urology, 62(4), pp.462~469 (2021), 대한비뇨의학회[DOI]
- Markazi S, "A novel mutation in SLC3A1 gene in patients with cystinuria", Iran J Kidney Dis, 10, pp.44~47 (2016)
- 김지현, "Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria", Journal of Korean Medical Science, 32(2), pp.310~314 (2017), 대한의학회
- Moussa M, "Update on cystine stones : current and future concepts in treatment", Intractable Rare Dis Res, 9, pp.71~78 (2020)
- 정해도, "Korean Society of Endourology and Robotics (KSER) recommendation on the diagnosis, treatment, and prevention of urolithiasis", Investigative and Clinical Urology, 64(4), pp.325~337 (2023), 대한비뇨의학회[DOI]
- Jeong JY, "Clinical course and mutational analysis of patients with cystine stone : a single-center experience", Biomedicines, 11, pp.2747~ (2023)
- Tanzer F, "Analysis of a 1-year-old cystinuric patient with recurrent renal stones", Int J Urol, 13, pp.1347~1349 (2006)
- Tangnararatchakit K, "Cystinuria : cause of recurrent renal stones in a 4-year-old girl", J Med Assoc Thai, (85 Suppl 4), pp.S1281~6 (2002)
- Halperin EC, "The use of D-penicillamine in cystinuria : efficacy and untoward reactions", Yale J Biol Med, 54, pp.439~446 (1981)
- Kowalczyk NS, "Cystinuria : review of a life-long and frustrating disease", Yale J Biol Med, 94, pp.681~686 (2021)
- Prot-Bertoye C, "CKD and its risk factors among patients with cystinuria", Clin J Am Soc Nephrol, 10, pp.842~851 (2015)