Zhu Xingying, Cheung Wai W, Zhang Aihua, Ding Guixia
Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Division of Pediatric Nephrology, Rady Children's Hospital, University of California, San Diego, CA, USA.
Kidney Dis (Basel). 2024 Jun 17;10(4):313-326. doi: 10.1159/000539516. eCollection 2024 Aug.
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.
This review summarizes PH through pathophysiology, genotype, clinical manifestation, diagnosis, and treatment options. And explore the characteristics of Chinese PH patients.
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 gene could be a common variant in Chinese PH1 population. Mutations at the end of exon 6 account for approximately 50% of all Chinese HOGA1 mutations. Currently, the treatment of PH in China still relies mainly on symptomatic and high-throughput dialysis, with poor prognosis (especially for PH1 patients).
原发性高草酸尿症（PH）是一种罕见的常染色体隐性疾病，主要由于内源性草酸盐生成增加，导致一系列临床特征，如肾结石、肾钙质沉着、肾功能进行性损害和全身草酸中毒。乙醇酸代谢异常有三种常见的遗传原因。其中，1型原发性高草酸尿症是最常见且最严重的类型，常出现早期终末期肾衰竭。
本综述通过病理生理学、基因型、临床表现、诊断和治疗方案对原发性高草酸尿症进行了总结。并探讨了中国原发性高草酸尿症患者的特征。
这种罕见疾病的诊断基于临床症状、尿或血草酸浓度、肝活检和基因检测。目前，主要治疗方法是大量补液、柠檬酸盐抑制结晶、透析、肝肾移植和使用吡哆醇。最近，RNA干扰药物也被应用。此外，基因编辑和自体肝细胞移植等技术也在研发中。基因中的C.815_816insGA和c.33_34insC突变可能是中国1型原发性高草酸尿症人群中的常见变异。外显子6末端的突变约占所有中国HOGA1突变的50%。目前，中国原发性高草酸尿症的治疗仍主要依赖对症治疗和高通量透析，预后较差（尤其是1型原发性高草酸尿症患者）。
