特发性高草酸尿症2例误诊及文献复习介绍.docVIP

原发性高草酸尿症2例误诊及文献复习 程震 唐政 陈惠萍 刘志红 南京军区南京总医院 全军肾脏病研究所 江苏省南京市中山东路305号 210002 [摘要] 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例患者的诊治经过并进行文献复习。结果：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岁时确诊终末期肾病，先后出现动静脉瘘血栓、腰椎压缩性骨折、低血压、肝脾淋巴结肿大。骨髓活检示较多结晶沉积，诊断为PH。例2为47岁女性，以“双肾多发结石、尿毒症”行肾移植，术后8月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，修正诊断为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。 [关键词] 原发性高草酸尿症；肾结石；肾功能衰竭 Primary hyperoxaluria: two misdiagnosed cases report and literature review Cheng Zhen， Tang Zheng， Chen Huiping， Liu Zhihong Research Institute of Nephrology， Jinling Hospital， Nanjing University School of Medicine， East Zhongshan Road #305， Nanjing， Chinarimary hyperoxaluria（PH）. Methods: We retrospective analysed two misdiagnosed cases of PH and reviewed the literature. Result: A 19 years old young man， with a kidney stone family history， was found multiple stones in bilateral kidneys and diagnosed “medullary sponge kidney”. He entered end stage renal disease at age 16. Thereafter， he suffered from thrombosis of arteriovenous fistula，lumbar vertebral compression fracture，hypotension，hepatosplenomegaly and enlargement of lymph node successively. Biopsy disclosed many crystallization in bone marrow and the diagnosis of PH was made. The second case was a 47 years old female，who was diagnosed kidney stone and received allograft kidney transplantation. Eight months later， the serum creatinine increased and a allograft kidney biopsy was performed. Many crystallization was found in the tubulointerstitial area of the kidney, and the serum level of oxalate was above the normal range. Conclusion:The misdiagnosis of PH is not rare. Onset of kidney stone in childhood, multiple kidney stones in patients with renal failure and kidney stone family history are important clues to the diagnosis of PH. 1.病例资料 [例1]19岁男性，因“发现肾结石16年，血透3年，反复低血压1月余”于2011年6月入院。患者3岁时排尿困难，后尿中解出结石，B超示双肾多发结石，未定期复查及治疗。2008年1月因恶心呕吐，查肌酐（Scr）1123umol/l，尿蛋白+，RBC +，血压140/80mmHg，B超提示双肾萎缩伴多发结石，诊为“髓质海绵肾”、尿毒症，开始维持血液透析,每周透析3次。2010年8月左前臂动静脉瘘发