首页   按字顺浏览 期刊浏览 卷期浏览 Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus
Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus

 

作者: J. Hananian,   J. E. Cleaver,  

 

期刊: Clinical Genetics  (WILEY Available online 1980)
卷期: Volume 17, issue 1  

页码: 39-45

 

ISSN:0009-9163

 

年代: 1980

 

DOI:10.1111/j.1399-0004.1980.tb00112.x

 

出版商: Blackwell Publishing Ltd

 

关键词: De Sanctis Cacchione;DNA repair;lupus erythematosus;sun sensitivity;unscheduled synthesis;xeroderna pigmentosum

 

数据来源: WILEY

 

摘要:

A patient is described who has a unique combination of symptoms that correspond with two sun‐sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematows (SLE). Both of these conditions have been suggested as being associated with a defect in DNA repair, but this is only clearly established for XP. The patient described is the only known case among U.S. blacks, thus far, although African black cases are known. Her DNA repair levels are 20–30% of normal, within the range found for many XP cell cultures and consistent with her assignment to group C by other investigators. Unusual for group C cases, however, are the neurological disorders, some of which correspond to those found in the de Sanctis Cacchione form of XP, which is commonly assigned to group A. Whether the associated SLE is a consequence of some special aspect of this particular XP condition or whether it is fortuitous cannot be resolved at pres

 

点击下载:  PDF (487KB)



返 回