Harris H W, Carpenter T O, Shanley P, Rosen S, Levey R H, Harmon W E
Am J Med. 1986 Jul;81(1):169-76. doi: 10.1016/0002-9343(86)90205-6.
Clinical, pathologic, and biochemical data are reported in two male infants who had rapidly progressive renal failure, enlarged kidneys, hepatosplenomegaly, and fat malabsorption. One infant, studied prior to the onset of significant renal insufficiency, manifested renal Fanconi syndrome, hyperparathyroidism, and marked hypocalcemia. After a brief period of dialysis, both received renal transplants. Neither has clinical evidence of reoccurrence of the renal disorder in the transplant, but both still have hepatic abnormalities. Morphologic features present in both patients include a renal lesion characterized by tubulointerstitial injury with a tubulocystic component and hepatic abnormalities with bile duct proliferation, portal fibrosis, and inflammation. These cases do not readily conform to any single published diagnostic category, including nephronophthisis-congenital hepatic fibrosis or infantile polycystic kidney disease, and appear to be unique.
报告了两名男婴的临床、病理和生化数据，他们患有快速进展的肾衰竭、肾脏肿大、肝脾肿大和脂肪吸收不良。其中一名婴儿在出现明显肾功能不全之前接受了研究，表现出肾性范可尼综合征、甲状旁腺功能亢进和明显的低钙血症。经过短暂的透析后，两人均接受了肾移植。两人的移植肾均无肾脏疾病复发的临床证据，但两人仍有肝脏异常。两名患者的形态学特征包括：以肾小管间质损伤伴肾小管囊肿形成的肾脏病变，以及伴有胆管增生、门静脉纤维化和炎症的肝脏异常。这些病例不易归入任何已发表的单一诊断类别，包括肾痨-先天性肝纤维化或婴儿多囊肾病，似乎是独特的。
