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Journal of the Korean Society of Pediatric Nephrology 2013;17(2): 122-126. doi: https://doi.org/10.3339/jkspn.2013.17.2.122
8개월 여아에서 다발성 결석으로 진단된 시스틴뇨증 1례
강은구*, 이주훈*, 이범희*,†, 김구환, 박영서*
1울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과*
2의학유전학센터†
A Case of Cystinuria with Multiple Renal Stones in an 8-month-old Girl
Eun Gu Kang*, Joo Hoon Lee*, Beom Hee Lee*,†, Gu-Hwan Kim, Young Seo Park*
1Department of Pediatrics*, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea
2Medical Genetics Center†, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea
Corresponding Author: Young Seo Park ,Tel: 02-3010-3386, Fax: 02-473-3725, Email: yspark@amc.seoul.kr
Received: July 22, 2013;  Accepted: August 13, 2013.
This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons. org/licenses/bync/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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ABSTRACT
Cystinuria is an autosomal recessive disease characterized by impaired transport of cystine and dibasic amino acids in the proximal renal tubule, resulting in the formation of cystine stones. It is believed to account for about 1% of all kidney stones and up to 10% of pediatric stones. Here we report a case of cystinuria with multiple renal stones confirmed by genetic mutational analysis. An 8-monthold girl was admitted to AMC with persistent fever and multiple renal stones. A renal sonogram showed multiple stones at the right renal pelvis, right distal ureter, and left renal medullary portion. An approximately 1 cm renal stone was extracted spontaneously, and stone analysis revealed it to be composed entirely of cystine. Cystinuria was confirmed by increased urine dibasic amino acid levels, including cysteine, and genetic mutational analysis showed the patient to be a homozygote for the pathogenic c. 1820del (p.L607fs) of SLC3A1 . Despite treatment with oral hydration and urinary alkalinization, and restricted intake of animal protein, the stones increased in size and number. The patient has since been treated with tiopronin.
Key words: Cystinuria | Urolithiasis | SLC3A1 protein | Human
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