Bianchi C, Barera G, Picciotti M, Barbiano di Belgioioso G, Bellini F
Scientific Institute H. San Raffaele, Pediatric Department, University of Milan, Italy.
Helv Paediatr Acta. 1989 Jun;43(5-6):449-55.
This report concerns a boy presenting renal disease with tubulointerstitial nephropathy which suggests familial juvenile nephronophthisis, hepatosplenomegaly due to congenital hepatic fibrosis, tapetoretinal degeneration, probable endocrine involvement and congenital skeletal abnormalities. The associations presented in this paper have not previously been reported.
本报告涉及一名患有肾小管间质性肾病的男孩，提示为家族性青少年肾单位肾痨，因先天性肝纤维化导致肝脾肿大、视网膜色素变性、可能存在内分泌受累以及先天性骨骼异常。本文所呈现的这些关联此前未见报道。
