Proesmans W, Van Damme B, Macken J
Clin Nephrol. 1975;3(4):160-4.
A 12 year-old boy was referred because of general weakness, enuresis and pallor which had been present for at least six months. Previously, the child had been hospitalized at the age of five, because of mental retardation and hepatosplenomegaly, for which no cause could be found. He had severe renal insufficiency, with all the hallmarks of nephronophthisis. In addition his vision was very poor and fundoscopy revealed tapetoretinal degeneration. The liver and spleen were grossly enlarged. Liver function was almost completely normal, but histology showed diffuse periportal febrosis with profiferation of the bile ducts. This observation seems to confirm the existence of a new syndrome, associating nephronophthisis and liver fibrosis as described by Boichis and coworkers (1973).
一名12岁男孩因全身乏力、遗尿和面色苍白至少6个月而前来就诊。该患儿曾在5岁时因智力发育迟缓及肝脾肿大住院，当时未查明病因。他患有严重的肾功能不全，具有肾单位肾痨的所有特征。此外，他视力极差，眼底检查显示视网膜色素变性。肝脏和脾脏明显肿大。肝功能几乎完全正常，但组织学检查显示门静脉周围弥漫性纤维化伴胆管增生。这一观察结果似乎证实了一种新综合征的存在，即如博伊希斯及其同事（1973年）所描述的，肾单位肾痨与肝纤维化相关联。
