目的　探讨家族性少年性肾单位痨 髓质囊肿病 (FJN MCD)临床表现特点及诊断。方法　收集 15年间住院诊断本病患儿 2 0例 ,对其临床资料作回顾性分析。结果　儿童FJN MCD以男性多见。临床症状 16例(80 % )为多饮多尿 ,18例 (90 % )为生长落后。其临床表现隐匿 ,早期的多饮多尿症状常常被忽视。大多数患儿因贫血、生长缓慢或停滞就诊 ,经检查发现肾功能不全时才能作出诊断 ,肾脏B超和肾活检于皮髓交界区或髓质可见囊肿 ,但大多数仅提示慢性肾病改变。结论　FJN MCD常于幼年起病 ,以多饮多尿、生长落后为主要表现 ,伴有肾功能不全、贫血、酸中毒有助于诊断 Objective To investigate the clinical features and diagnosis of familial juvenile nephrotic syndrome (FJN MCD). Methods Twenty cases of children diagnosed as having been hospitalized for 15 years were collected and their clinical data were retrospectively analyzed. Results Children FJN MCD more common in men. Clinical symptoms 16 cases (80%) were polyhydric polyuria, 18 cases (90%) of the growth and backward. Its clinical manifestations of hiding, polyhydramnios early symptoms are often overlooked. Most children due to anemia, slow growth or stagnation treatment, examination revealed renal insufficiency to make a diagnosis, renal B ultrasound and renal biopsy in the junction of the spinal cord or medulla visible cysts, but most of them only prompt changes in chronic kidney disease. Conclusion FJN MCD often onset in juvenile, polyhydramnios, growth and backwardness as the main manifestation, accompanied by renal insufficiency, anemia, acidosis contribute to the diagnosis