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Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2

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Abstract

Primary hyperoxaluria type 2 (PH2) is a rare hereditary disease that causes nephrolithiasis, nephrocalcinosis and kidney failure. This study aimed to investigate the clinical features and mutational spectrum of Chinese patients with PH2. A retrospective cohort study was performed on PH2 patients admitted to our center over seven years. We also systematically reviewed all the articles on Chinese PH2 patients published from January 2000 to May 2023 and conducted a meta-analysis. A total of 25 PH2 patients (10 from our center and 15 from published studies) were included in this study. The median age of onset in patients from our center was 8.50 (1.00, 24.00) years, and 50% were male. Among the full cohort of 25 Chinese patients, the median age of onset was 8.00 (0.40, 26.00) years, and 64% of them were male. Seven patients progressed to end-stage kidney disease, with a median age of 27.50 (12, 31) years. The cumulative renal survival rates were 100%, 91.67%, 45.83% and 30.56% at 10, 20, 30 and 40 years of age, respectively. A total of 18 different variants were identified, and c.864_865del was the dominant variant, accounting for 57.69% of the total alleles. Patients who were heterozygous for c.864_865del were more susceptible to nephrocalcinosis than those who were homozygous for c.864_865del and those harboring other mutations (83.33% versus 33.3% and 0%, respectively) (p = 0.025). The clinical features and mutational spectrum of Chinese PH2 patients were described. This study helps to expand awareness of the phenotypes and genotypes of Chinese PH2 patients and contributes to the improvement of diagnostic and treatment strategies for PH2 patients.

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Acknowledgements

We are very grateful to the Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding (XMLX202101) for supporting this work.

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Authors and Affiliations

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

    Yukun Liu, Zhenqiang Zhao, Yucheng Ge, Longzhi He, Siyu Qi & Wenying Wang

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  1. Yukun Liu
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  2. Zhenqiang Zhao
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  3. Yucheng Ge
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  4. Longzhi He
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  5. Siyu Qi
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Contributions

All the authors contributed to the study conception and design. Study design and data collection: Yukun Liu, Zhenqiang Zhao, Yucheng Ge and Wenying Wang. Statistical analysis and interpretation: Longzhi He and Siyu Qi. Yukun Liu, Zhenqiang Zhao and Yucheng Ge wrote the manuscript. Wenying Wang revised the manuscript. Longzhi He and Siyu Qi prepared the figures and tables. All the authors reviewed the manuscript. All the authors contributed to the revision and drafting of the article.

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Correspondence to Wenying Wang.

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The authors declare that they have no conflicts of interest.

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Informed consent was obtained from the parents of the patients included in the study.

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None.

Ethics approval

This study was performed in accordance 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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Liu, Y., Zhao, Z., Ge, Y. et al. Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2. Urolithiasis 52, 74 (2024). https://doi.org/10.1007/s00240-024-01579-y

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