青少年肾单位肾痨伴新发骨骼异常、视网膜色素变性和肝纤维化。
Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis.
作者信息
Bianchi C, Barera G, Picciotti M, Barbiano di Belgioioso G, Bellini F
机构信息
Scientific Institute H. San Raffaele, Pediatric Department, University of Milan, Italy.
出版信息
Helv Paediatr Acta. 1989 Jun;43(5-6):449-55.
PMID:2745140
Abstract
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.
摘要
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。
相似文献
1
Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis.青少年肾单位肾痨伴新发骨骼异常、视网膜色素变性和肝纤维化。
Helv Paediatr Acta. 1989 Jun;43(5-6):449-55.
2
Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome.
Birth Defects Orig Artic Ser. 1976;12(3):463-74.
3
[Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases].肾痨、视网膜色素变性、脑病和小脑蚓部发育不全：一种新的关联。关于3例家族性病例
Ann Pediatr (Paris). 1989 Feb;36(2):126-31.
4
Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.肾痨与伴肝纤维化的视网膜色素变性
Clin Nephrol. 1975;3(4):160-4.
5
Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins.双胞胎中的青少年肾单位肾痨、先天性肝纤维化和视网膜发育不全。
Q J Med. 1978 Jul;47(187):281-90.
6
[Nephronophtisis in a child whose father has isolated ocular involvement].[父亲仅有眼部受累的患儿患肾单位肾痨]
Arch Fr Pediatr. 1989 Mar;46(3):203-4.
7
[Congenital liver fibrosis associated with tubulointerstitial nephropathy resembling nephronophthisis in an 8-year-old boy].
Cesk Pediatr. 1984 Oct;39(10):594-7.
8
9
[Familial chronic interstitial nephropathy and retinal dystrophy (Senior-Loken syndrome)].[家族性慢性间质性肾病和视网膜营养不良（Senior-Loken综合征）]
Nouv Presse Med. 1974 Feb 9;3(6):309-12.
10
Kniest (Wagner-Stickler variant) and Goldmann-Favre disease in one sibship.同一家庭中的Kniest（瓦格纳-施蒂克勒变异型）和戈德曼-法夫尔病。
Bull Soc Belge Ophtalmol. 1987;223 Pt 2:27-32.
引用本文的文献
1
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.TMEM67 基因中的双等位基因变异导致 RHYNS 综合征。
Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11.
Zotero 插件