• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Medullary cystic disease vs nephronophthisis. A valid distinction?

作者信息

Giangiacomo J, Monteleone P L, Witzleben C L

出版信息

JAMA. 1975 May 12;232(6):629-31.

PMID:1173153
Abstract

It has been proposed that medullary cystic disease and nephronophthisis are distinguishable by the mode of inheritance and the age of onset. The former is inherited as an autosomal dominant, the latter as an autosomal recessive, with the onset at the average age of 26.7 years and 10.5 years, respectively. The present kindred would appear to have a dominant inheritance and onset at 10.1 years of age. This emphasizes the importance of examining those families in whom medullary cystic disease is suspected, prior to genetic consultation.

摘要

相似文献

1
Medullary cystic disease vs nephronophthisis. A valid distinction?
JAMA. 1975 May 12;232(6):629-31.
2
Juvenile nephronophthisis and medullary cystic disease.青少年肾单位肾痨和髓质囊性疾病。
Mayo Clin Proc. 1977 Aug;52(8):485-91.
3
Juvenile nephronophthisis and medullary cystic disease--the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy).青少年肾单位肾痨和髓质囊性病——同一种疾病(一个与痛风和癫痫相关的髓质囊性病大家族的报告)
Clin Nephrol. 1982 Jul;18(1):1-8.
4
Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.遗传性肾视网膜发育不良与髓质囊性疾病-肾单位肾痨综合征
Ann Intern Med. 1976 Feb;84(2):157-61. doi: 10.7326/0003-4819-84-2-157.
5
Medullary cystic disease and familial juvenile nephronophthisis.
N Engl J Med. 1967 Oct 19;277(16):863-4. doi: 10.1056/NEJM196710192771606.
6
Nephronophthisis-medullary cystic kidney disease complex: a report on 24 patients from 5 families with Italian ancestry.
Contrib Nephrol. 1997;122:61-3. doi: 10.1159/000059870.
7
Clinical, pathological and genetic aspects of a form of cystic disease of the renal medulla: familial juvenile nephronophthisis (FJN).一种肾髓质囊性疾病的临床、病理及遗传学特征:家族性青少年肾单位肾痨(FJN)
Clin Nephrol. 1978 Feb;9(2):55-62.
8
Cystic disease of the renal medulla and its possible relation to juvenile nephronophthisis.肾髓质囊性疾病及其与青少年肾单位肾痨的可能关系。
Acta Med Scand. 1968 Mar;183(3):275-80. doi: 10.1111/j.0954-6820.1968.tb10477.x.
9
Evolution of clinical signs in adult-onset cystic disease of the renal medulla.
Ann Intern Med. 1971 Jan;74(1):47-54. doi: 10.7326/0003-4819-74-1-47.
10
Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease).
Adv Nephrol Necker Hosp. 1995;24:379-93.

引用本文的文献

1
Hereditary renal-retinal dysplasia.遗传性肾视网膜发育不良。
Doc Ophthalmol. 1980 Oct 15;49(2):347-59. doi: 10.1007/BF01886626.
2
The nephronophthisis complex. A clinicopathologic study in children.肾痨综合征。儿童的临床病理研究。
Virchows Arch A Pathol Anat Histol. 1982;394(3):235-54. doi: 10.1007/BF00430668.