Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.

Xingying Zhu, Wai W Cheung, Aihua Zhang, Guixia Ding

Abstract readReview

In one paragraph

Review in Kidney diseases (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis.Genes · 2026
Article

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Xingying ZhuDepartment of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.

Wai W CheungDivision of Pediatric Nephrology, Rady Children's Hospital, University of California, San Diego, CA, USA.

Aihua ZhangDepartment of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.

Guixia DingDepartment of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder, mainly due to the increase in endogenous oxalate production, causing a series of clinical features such as kidney stones, nephrocalcinosis, progressive impairment of renal function, and systemic oxalosis. There are three common genetic causes of glycolate metabolism anomalies. Among them, PH type 1 is the most prevalent and severe type, and early end-stage renal failure often occurs. Summary: This review summarizes PH through pathophysiology, genotype, clinical manifestation, diagnosis, and treatment options. And explore the characteristics of Chinese PH patients. Key Messages: Diagnosis of this rare disease is based on clinical symptoms, urinary or blood oxalate concentrations, liver biopsy, and genetic testing. Currently, the main treatment is massive hydration, citrate inhibition of crystallization, dialysis, liver and kidney transplantation, and pyridoxine. Recently, RNA interference drugs have also been used. In addition, technologies such as gene editing and autologous liver cell transplantation are also being developed. C.815_816insGA and c.33_34insC mutation in the

Indexed as

Chinese populationPrimary hyperoxaluriaPrimary hyperoxaluria mutations

Identifiers

PMID39131880

DOI10.1159/000539516

PMCPMC11309763

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