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Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

 Jae Yong Jeong  ;  Kyung Jin Oh  ;  Jun Seok Sohn  ;  Dae Young Jun  ;  Jae Il Shin  ;  Keum Hwa Lee  ;  Joo Yong Lee 
 BIOMEDICINES, Vol.11(10) : 2747, 2023-10 
Journal Title
Issue Date
cystinuria ; mutation ; urolithiasis
Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients' phenotypes, clinical courses, and genetic analyses. A total of 10 patients with cystinuria diagnosed with cystine stones in a single tertiary medical center (Severance Hospital, Seoul, Republic of Korea) from April 2000 to July 2023 were included in the study. All of the patients participated in mutational studies, and the clinical presentation and consecutive laboratory findings of the patients were analyzed retrospectively. After the initial stone-related surgery or procedure at our hospital, 6 of the 10 patients underwent additional surgery at least once for recurrent stones. Genetic analyses identified six new mutations, of which only two patients had type B mutations. The most common genotype was compound heterozygous type A. We investigated the genotypes and clinical courses of 10 Korean patients with cystinuria who had not been previously reported. More data are needed to statistically analyze the genotype and phenotype of cystinuria.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Urology (비뇨의학교실) > 1. Journal Papers
Yonsei Authors
Shin, Jae Il(신재일) ORCID logo https://orcid.org/0000-0003-2326-1820
Lee, Keum Hwa(이금화) ORCID logo https://orcid.org/0000-0002-1511-9587
Lee, Joo Yong(이주용) ORCID logo https://orcid.org/0000-0002-3470-1767
Jun, Dae Young(전대영)
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