Delaney V, Mullaney J, Bourke E
Q J Med. 1978 Jul;47(187):281-90.
Juvenile nephronophthisis has been recognized recently as an important cause of chronic renal failure in childhood and adolescence. This report describes clinical and morphological findings in monozygotic twins in whom the triad of juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia coexisted. The findings are discussed in relation to previous reports of nephronophthisis associated with either retinal abnormalities or congenital hepatic fibrosis. The occurrence of similar ocular and hepatic anomalies with the other cystic kidney diseases, polycystic disease and medullary sponge kidney disease is reviewed. A spectrum of oculo-hepato-renal syndromes is identified with many interrelated features which suggest a shared basic aetiology.
青少年肾单位肾痨最近已被公认为儿童和青少年慢性肾衰竭的一个重要原因。本报告描述了同卵双胞胎中同时存在青少年肾单位肾痨、先天性肝纤维化和视网膜发育不全三联征的临床和形态学表现。结合先前关于肾单位肾痨与视网膜异常或先天性肝纤维化相关的报告对这些发现进行了讨论。还回顾了其他囊性肾病（多囊病和髓质海绵肾疾病）中类似眼部和肝脏异常的发生情况。确定了一系列眼-肝-肾综合征，它们具有许多相互关联的特征，提示存在共同的基本病因。
