肾移植术后腺嘌呤磷酸核糖基转移酶缺乏症1例及文献复习

Adenine phosphoribosyltransferase deficiency after kidney transplantation: a case report and literature review

    摘要
  • 摘要:
      目的  总结肾移植术后腺嘌呤磷酸核糖基转移酶缺乏症的诊疗经验。
      方法  回顾性分析1例肾移植术后腺嘌呤磷酸核糖基转移酶缺乏症患者的临床资料，结合文献复习总结该病临床特点、诊断、治疗和预后。
      结果  患者肾活组织检查显示多数肾小管管腔内可见盐类结晶沉积，偏振光阳性。经过别嘌醇、血液透析和抗结晶等治疗移植物功能逐渐恢复。术后随访1年，患者肾功能恢复良好。
      结论  肾移植术后腺嘌呤磷酸核糖基转移酶缺乏症可能导致移植物功能恢复延迟或障碍，早发现、早诊断、早治疗可延缓疾病进展，改善功能。

     

    Abstract:
      Objective  To summarize the diagnosis and treatment experience of adenine phosphoribosyltransferase deficiency after kidney transplantation.
      Methods  Clinical data of 1 patient with adenine phosphoribosyltransferase deficiency after kidney transplantation were retrospectively analyzed. Clinical characteristics, diagnosis, treatment and prognosis of adenine phosphoribosyltransferase deficiency were summarized by literature review.
      Results  Renal biopsy showed that salt crystallization was found in most renal tubule lumen and positive results were observed under polarized light microscopy. After allopurinol, hemodialysis and anti-crystallization treatment, the graft function was gradually recovered. After postoperative 1-year follow-up, the patient's renal function was properly recovered.
      Conclusions  Adenine phosphoribosyltransferase deficiency after kidney transplantation may lead to delayed graft function or graft dysfunction. Early detection, diagnosis and treatment may delay disease progression and improve renal function.

     

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