原发性高草酸尿症误诊二例及文献复习

Literature Review of Two Misdiagnosed Patients with Primary Hyperoxaluria

目的探讨原发性高草酸尿症(PH)的临床病理表现和误诊原因。方法回顾性分析2例PH诊治经过并进行文献复习。结果 1例19岁男性,有肾结石家族史,3岁时发现双肾多发结石,诊断为髓质海绵肾,16岁时诊为终末期肾病,先后出现动静脉瘘血栓、腰椎压缩性骨折、低血压、肝脾淋巴结增大。骨髓活检示较多结晶沉积,诊断为PH。另1例为47岁女性,因双肾多发结石、尿毒症行肾移植术,8个月后移植肾活检见多发结晶沉积于肾小管间质。测血草酸明显升高,诊断为PH。结论对有肾结石家族史或幼年起病、肾功能逐步受损者需考虑到PH的可能,血、尿草酸测定、组织活检有助于明确诊断。

Objective To investigate the clinical pathological manifestation and misdiagnosis causes of primary hyperoxaluria （PH）. Methods The diagnosis process of 2 patients with PH were retrospectively analyzed, and the related literatures were reviewed. Results A 19-year-old male with family history of a kidney stone was found with multiple stones in bilateral kidneys and diagnosed as having medullary sponge kidney when he was 3. He was diagnosed as having end stage renal disease at the age of 16 whose symptoms were thrombosis of artcriovenous fistula, lumbar vertebral compression fracture, hypotension, hepatospl enomegaly and enlargement of lymph node. The diagnosis of PH was made according to biopsy of more crystallization in bone marrow. The second ease was a 47-year-old female who underwent allograft kidney grafting for multiple calculus in both kidneys and uremia, After eight months, multiple crystallization was found in the interstitial substance of kidney tubules and the serum level of oxalate in- creased obviously by allograft kidney biopsy, and the PH was confirmed. Conclusion The patients who have a family history of kidney stone, onset of kidney stone in childhood or stepwise renal function damage should be considered as PH. The detections of hemal and uric oxalic acid and tissues biopsy are helpful for diagnosis of PH.