目的 探讨肾髓质囊肿病的诊断和病理特点。 方法 156例病理诊断为肾小管间质肾病患者分为急性肾小管间质肾病(acute tubulointerstitial nephropathy,ATIN)组、慢性肾小管间质肾病(chronic tubulointerstitial nephropathy,CTIN)组和肾髓质囊肿病(medullary cystic kidney disease,MCKD)组，分析临床和病理，肾组织尿调蛋白染色，测定尿中尿调蛋白(uromodulin,UMOD)水平。 结果 MCKD组发病年龄小，血尿酸高于CTIN组(P=0.011)，UMOD呈团块状分布在小管上皮细胞内，与正常的均质状分布不同。尿UMOD低于对照(P=0.047)。 结论 MCKD诊断应结合临床病理及尿调蛋白的染色及尿中水平的测定。

Objectives Medullary cystic kidney disease (MCKD) is a tubulointerstitial nephropathy leading to end-stage renal failure. We combine the clinical and pathological characteristics as well as laboratory examinations to discuss the diagnosis of MCKD. Methods A total of 156 individuals with tubulorinterstitial nephropathy were assigned into 3 groups, acute tubulointerstitial nephropathy (ATIN), chronic tubulointerstitial nephropathy (CTIN) and MCKD. Clinical data and pathological findings were analyzed. Immunohistochemistry staining of uromodulin was performed for MCKD cases. Urinary uromodulin concentrations in MCKD and 99 healthy people were tested by ELISA. Results The age at diagnosis was much younger in MCKD than in CTIN. Serum uric acid level was significantly higher in MCKD than in CTIN patients (P=0.011). Uromodulin staining by immunohistochemistry showed block mass and dense stain in tubular cells, while it was diffused in cytoplasm with apical reinforce in normal controls. Urinary uromodulin concentration was much lower in MCKD (P=0.047). Conclusions MCKD as one cause of tubulointerstitial nephropathy should not be ignored. Clinical data, pathological and laboratory examinations are useful for its diagnosis.