成人型肾髓质囊性病1例报告并文献复习

目的探讨成人型青少年消耗病—髓质囊性综合征(JN-MCD)的临床特征、病理特点和治疗方法。方法回顾性分析1例临床资料并进行相关文献复习。结果患者行右肾根治性切除术,术后病理为间质性肾炎伴局灶性囊肿。结论成人型JN-MCD是一组起病隐匿、以肾髓质囊肿形成及慢性肾功能不全为特征的遗传性囊性肾病,该病临床表现多样,有时临床表现不典型,加强对该病的认识,可减少误诊、漏诊、误治。

Objective To evaluate the clinical presentations, pathologic characteristics and the diagnosis and treatment of medullary cystic disease. Methods One case of medullary cystic disease was analyzed and the relevant literature was reviewed. A 38-year-old male with a history of no manifest clinical presemations.CT scan demonstrated a large mass about 7.6 cm×7.1 cm×8.4 cm arising frnm medial upper pole of right renal, asymmetrical enhancement at nephrogram. Results Right renal radical ectomy was performed, pathology showed interstitial nephritis with t＇ocal cystis.Conclusion Medullary cystic disease is an intriguing complex, its clinical onset and course are so insidious and involve such a paucity of signs and symptoms, it is easily misdiagnosed and missed diagnosing.