青少年肾消耗病-髓质囊性病综合征2例并文献复习

目的：了解青少年肾消耗病一髓质囊性病综合征（juvenile nephronophthisis and medullary cystic disease，JN-MCD）的临床特征，以提高对该病的认识。方法：回顾性分析2例临床资料并进行文献复习。蛄果：2例患者均在青少年时期发病，以多尿、烦渴、贫血、慢性肾功能不全、生长发育迟缓为主要表现。其中1例伴有色素性视网膜炎而另1例伴有明显的甲状旁腺功能亢进症。实验室检查可见血红蛋白降低、尿比重降低、多种电解质紊乱、肾功能异常等特点，影像学检查可见双肾多发囊肿，囊肿主要位于皮髓交界及髓质。结论：JN-MCD是一组以肾髓质囊肿形成及隐匿性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，有时患者临床表现不典型，加强对该病的认识，可以减少误诊、漏诊率，提高对该痛的早期诊断。

Juvenile Nephronophthisis and Medullary Cystic Disease: Two Cases Report and Literature Review

Objective: To study the clinical features of juvenile nephronophthisis and medullary cystic disease and improve the knowledge of the disease. Methods:Retrospectively analyzed the clinical data of 2 patients with juvenile nephronophthisis and medullary cystic disease and reviewed related literatures. Results: Both cases presented at the juveniles stage. The main symptoms were characterized by polyuria, polydipsia, enuresis, growth retardation, anemia and chronic renal failure. One case had pigmentary retinopathy and the other had secondary hyperparathyroid. Laboratory tests showed lower haemoglobin, lower specific gravity of urine. electrolyte disturbance and higher serum creatinine or blood urea nitrogen in both cases. Ultrasound. computerized tomography scanning or magnetic resonance imaging showed multicysts at the corticomedullary border or medullary of the two kidneys. Conclusion: Nephronophthisis and medullary cystic kidney disease is hereditary disease characterized by renal multicysts and latent chronic renal failure. The clinical symptoms are various and sometimes not typical. By studying the clinical features of the disease, we can reduce the possibilities of misdiagnosis and missed diagnosis and increase early diagnostic rate of the disease.