特发性高草酸尿症并不完全性远端肾小管酸中毒1例报告及文献复习

Idiopathetic hyperoxaluria accompanied by incomplete distal renal tubular acidosis(A case report and review of literature)

目的:探讨特发性高草酸尿症并不完全性远端肾小管酸中毒的临床特点。方法:回顾性分析1例特发性高草酸尿症并不完全性远端肾小管酸中毒患者的临床资料,并结合文献复习予以讨论。结果:连续两次24 h尿草酸检测结果分别为89.90 mg和93.83 mg,提示为高草酸尿症,结合临床特点诊断为特发性高草酸尿症。血气分析和血电解质未见异常,肾小管酸化功能检测结果:可滴定酸(TA)为0 mmol/L,NH+4为12.93 mmol/L,净酸排泄量(NAE)为12.93 mmol/L,氯化铵负荷试验阳性,提示为不完全性远端肾小管酸中毒。结论:特发性高草酸尿症与远端肾小管酸中毒均为尿路结石形成和复发的原因之一,对尿路结石患者应积极寻找结石成因,以期进行合理的治疗和有效的预防。

Objective：To evaluate the clinical features of idiopathetic hyperoxaluria accompanied by incomplete distal renal tubular acidosis. Methods：The clinical data of one case of idiopathetic hyperoxaluria accompanied by incomplete distal renal tubular acidosis were reported and the relevant literature was reviewed. A 24-year-old female suffered from repeated double kidney stones for 19 years. After hospitalization, the patient was positively treated to seek the anatomical and metabolic abnormality related to urinary calculus. Results：Twice oxalate analyses of 24h urine reported 89.90 mg and 93.83 nag separately, supporting hyperoxaluria, with the clinical features of this patient, Idiopathetic hyperoxaluria was diagnosed ; Blood gas analysis and electrolytes level were normal, the determi-nation of acidification capacity of renal tubule reported that the concentration of titratable acid （TA） was 0 mmol/ L, NH^＋4 was 12.93 mmol/L, and net acid excretion（NAE） was 12.93 mmol/L, ammonium chloride loading test showed a positive result, so incomplete distal renal tubular acidosis was diagnosed. Conelusions：Idiopathetic hyper-oxaluria as well as distal renal tubular acidosis was one reason for the formation and recurrence of urinary calculus. In order to practice rational therapy and effective prevention, we should try to find out the etiopathogenisis of patients with urinary calculus.