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Genetic and clinical analysis of Chinese pediatric patients with cystinuria

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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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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Acknowledgements

This work was supported by the Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding (XMLX202101).

Funding

This study was supported by Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding, XMLX202101.

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Author notes

  1. Ruichao Zhan and Yucheng Ge have contributed equally to this work.

Authors and Affiliations

  1. Department of Urology, Beijing Friendship Hospital, Capital Medical University, 95 YongAn Road, Xicheng District, Beijing, 100050, China

    Ruichao Zhan, Yucheng Ge, Yukun Liu, Zhenqiang Zhao & Wenying Wang

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  1. Ruichao Zhan
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  2. Yucheng Ge
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Contributions

Study design and data collection: RZ, YG, and WW. Data statistical analysis/interpretation: YL and WW. RZ and YG wrote the main manuscript text. YL and ZZ prepared Figs. 1–4 and Tables 1–3. All authors reviewed the manuscript. All authors contributed to revision and drafting of the article.

Corresponding author

Correspondence to Wenying Wang.

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The authors declare that they have no conflict of interest.

Ethical approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Beijing Friendship Hospital, Capital Medical University (Date 02/01/2021/No. 2021-P2-019).

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Informed consent was obtained from all individual participants included in the study.

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Zhan, R., Ge, Y., Liu, Y. et al. Genetic and clinical analysis of Chinese pediatric patients with cystinuria. Urolithiasis 51, 20 (2023). https://doi.org/10.1007/s00240-022-01398-z

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