Dieterich E, Straub E
Helv Paediatr Acta. 1980 Jul;35(3):261-7.
Familial juvenile nephronophthisis (FJN) is an autosomal-recessive disease which may exist as an isolated nephropathy or in combination with degenerative involvement of certain oran systems. The case reported describes a new variant of this lethal syndrome consisting of FJN, hepatic fibrosis, and neurocutaneous dysplasia (hypoplastic vermis of the cerebellum, choroid coloboma, and naevus flammeus). The same condition was probably present in the patient's sister who had also died at 6 years of age.
家族性青少年肾单位肾痨（FJN）是一种常染色体隐性疾病，可作为一种孤立性肾病存在，或与某些器官系统的退行性病变合并存在。所报道的病例描述了这种致命综合征的一种新变体，包括FJN、肝纤维化和神经皮肤发育异常（小脑蚓部发育不全、脉络膜缺损和火焰状痣）。患者的姐姐6岁时也已死亡，她可能也患有同样的疾病。
