■原发性高草酸尿症(PH)是一种罕见的常染色体隐性遗传疾病,主要是由于内源性草酸盐产量的增加,引起一系列临床特征,如肾结石,肾钙化病,肾功能进行性损害,和全身性氧化中毒.乙醇酸代谢异常有三种常见的遗传原因。其中,PH类型1是最普遍和最严重的类型,早期终末期肾衰竭常发生。
■这篇综述通过病理生理学总结了PH,基因型,临床表现,诊断,和治疗选择。并探讨中国PH患者的特点。
■这种罕见疾病的诊断是基于临床症状,尿或血草酸盐浓度,肝活检,和基因检测。目前,主要治疗方法是大量水化,柠檬酸盐抑制结晶,透析,肝肾移植,还有吡哆醇.最近,RNA干扰药物也已被使用。此外,基因编辑和自体肝细胞移植等技术也在开发中。AGXT基因中的C.815_816insGA和c.33_34insC突变可能是中国PH1人群中的常见变异。外显子6末端的突变占所有中国HOGA1突变的大约50%。目前,在中国,PH的治疗仍主要依靠对症和高通量透析,预后不良(尤其是PH1患者)。
UNASSIGNED: 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.
UNASSIGNED: This review summarizes PH through pathophysiology, genotype, clinical manifestation, diagnosis, and treatment options. And explore the characteristics of Chinese PH patients.
UNASSIGNED: 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 AGXT 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).