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Genetic and clinical analysis of Chinese pediatric patients with cystinuria
Ruichao Zhan1, Yucheng Ge1, Yukun Liu1
1Department of Urology, Beijing Friendship Hospital, Capital Medical University, 95 YongAn Road, Xicheng District, Beijing, 100050, China.
Insights
This study identified novel genetic mutations in Chinese children with cystinuria, a rare kidney stone disease. Patients with SLC7A9 gene mutations showed a higher incidence of bilateral kidney stones compared to those with SLC3A1 mutations.
Area of Science:
- Genetics
- Pediatric Nephrology
- Molecular Biology
Background:
- Cystinuria is a genetic disorder affecting amino acid transport, leading to cystine kidney stones.
- Understanding the genetic basis of cystinuria in pediatric populations is crucial for diagnosis and management.
- Previous studies on Chinese pediatric cystinuria patients are limited.
Purpose of the Study:
- To investigate the genotypic and phenotypic characteristics of Chinese pediatric patients with cystinuria.
- To identify novel mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria.
- To explore the correlation between specific gene mutations and clinical manifestations, such as bilateral stone formation.
Main Methods:
- Retrospective analysis of 14 Chinese pediatric patients diagnosed with cystinuria.
- Comprehensive literature review of published studies on Chinese pediatric cystinuria cases.
- Genetic analysis to detect mutations in the SLC3A1 and SLC7A9 genes.
- Phenotypic data collection including age of onset, stone characteristics, and laterality.
Main Results:
- A total of 13 SLC3A1 and 9 SLC7A9 gene mutations were identified in the initial cohort, with 41% being novel.
- In a larger cohort of 55 children, 34 SLC3A1 and 28 SLC7A9 mutations were found.
- Patients with SLC7A9 mutations had a significantly higher likelihood of developing bilateral stones (100%) compared to those with SLC3A1 mutations (33.3%).
- Specific mutation hotspots in both SLC3A1 and SLC7A9 genes were identified.
Conclusions:
- This study presents a comprehensive genetic spectrum of cystinuria in Chinese pediatric patients.
- SLC7A9 gene mutations are associated with an increased risk of bilateral kidney stone formation.
- Identification of mutation hotspots can aid in genetic screening and understanding disease mechanisms in cystinuria.
Abstract:
This study aimed to investigate the genotypic and phenotypic characteristics of Chinese pediatric patients with cystinuria. This was a retrospective study of 14 Chinese pediatric patients with cystine stones. All published studies of the Chinese pediatric cystinuria population were searched and enrolled based on the inclusive standard. Among the 14 pediatric patients with cystinuria, 8 were males and 6 were females. The mean age of first stone onset was 4.0 ± 3.3 years (4 months-9 years). All of the patients had multiple stones, and 57.1% (8/14) had bilateral stones. The mean maximum stone diameter was 1.7 ± 0.6 (range 0.5-2.6) cm. A total of 13 SLC3A1 gene mutations and 9 SLC7A9 gene mutations were detected, of which 41% (9/22) of mutations were novel. Patients with SLC7A9 mutations were more likely to develop bilateral stones than those with SLC3A1 mutations (100% vs. 33.3%, p = 0.03). Thirty-four SLC3A1 gene mutations and twenty-eight SLC7A9 gene mutations were found in a total of fifty-five Chinese children with cystinuria. The SLC7A9 gene mutation distribution was more dispersed, while the SLC3A1 mutation was clustered in exons 6-8. The c.647C > T (p. T216M) (4/53) and c.1113C > A (p. Y371Ter) (4/53) mutations in the SLC3A1 gene and the c.1399 + 2_3insT (3/36) mutation in the SLC7A9 gene represent potential hotspots in cystinuria. Our results present a comprehensive genetic spectrum for pediatric cystinuria patients in China. Patients with SLC7A9 mutations were more likely to develop bilateral stones than those with SLC3A1 mutations. A wide mutation spectrum and the potential mutation hotspots associated with cystinuria were also identified.
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