The First Affiliated Hospital, Hengyang Medical School, University of South China, Hengyang 421001, China.
Department of Urology and Guangdong Key Laboratory of Urology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510230, China.
Biomolecules. 2024 Apr 23;14(5):511. doi: 10.3390/biom14050511.
Primary hyperoxalurias (PHs) are inherited metabolic disorders marked by enzymatic cascade disruption, leading to excessive oxalate production that is subsequently excreted in the urine. Calcium oxalate deposition in the renal tubules and interstitium triggers renal injury, precipitating systemic oxalate build-up and subsequent secondary organ impairment. Recent explorations of novel therapeutic strategies have challenged and necessitated the reassessment of established management frameworks. The execution of diverse clinical trials across various medication classes has provided new insights and knowledge. With the evolution of PH treatments reaching a new milestone, prompt and accurate diagnosis is increasingly critical. Developing early, effective management and treatment plans is essential to improve the long-term quality of life for PH patients.
原发性高草酸尿症(PHs)是一类遗传性代谢紊乱疾病,其特征为酶级联反应障碍,导致过量的草酸生成,随后从尿液中排出。草酸钙在肾小管和肾间质中的沉积引发肾损伤,导致全身性草酸积聚和随后的继发性器官损害。新型治疗策略的探索挑战了既定管理框架,并使之有必要进行重新评估。不同药物类别多样临床试验的实施提供了新的见解和知识。随着 PH 治疗的发展达到新的里程碑,及时准确的诊断变得越来越重要。制定早期、有效的管理和治疗计划对于改善 PH 患者的长期生活质量至关重要。