Skip Navigation


NDT Advance Access originally published online on March 29, 2007
Nephrology Dialysis Transplantation 2007 22(6):1499-1505; doi:10.1093/ndt/gfm024
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
22/6/1499    most recent
gfm024v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (7)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Kashtan, C. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kashtan, C. E.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author [2007]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females

Clifford E. Kashtan

Division of Pediatric Nephrology, Department of Pediatrics, University of Minnesota Medical School, University of Minnesota Children's Hospital, Fairview, MN, USA

Correspondence and offprint requests to: Clifford E. Kashtan, MD, University of Minnesota Medical School, MMC 491, 420 Delaware Street SE, Minneapolis, MN 55455, USA. Email: kasht001@umn.edu

Keywords: Alport syndrome; basement membranes; type IV collagen; X chromosome

The first 150 words of the full text of this article appear below.



   End-stage renal disease in women with Alport syndrome
 
In his 1927 report on ‘hereditary familial congenital haemorrhagic nephritis’, A. Cecil Alport [1] noted that the ‘male members of a family tend to develop nephritis and deafness and do not as a rule survive’, while ‘the females have deafness and haematuria and live to old age’. This characterization of the impact of gender on the outcome of Alport syndrome has been conventional wisdom for nearly 80 years. However, the family described by Alport included a female with haematuria and deafness who died at 24 years of age. Alport may have considered this woman an exception, but with the passage of time it has become clear that women with Alport syndrome are indeed at risk for progression to end-stage renal disease (ESRD).

Descriptions of Alport kindreds have often included affected women who developed uraemia. For example, Crawfurd and Toghill [2] described sisters in a large Alport . . . [Full Text of this Article]



   Genetic aspects of Alport syndrome in women
 


   Diagnosis of Alport syndrome in girls and women
 


   Outcomes of females in animal models of XLAS
 


   Renal transplantation in women with Alport syndrome
 


   Summary
 

Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Nephrol Dial TransplantHome page
O. Gross, M. Weber, J. W. U. Fries, and G.-A. Muller
Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome
Nephrol. Dial. Transplant., May 1, 2009; 24(5): 1626 - 1630.
[Abstract] [Full Text] [PDF]

Home page
 Nephrol Dial TransplantHome page
C. E. Kashtan
Women with Alport syndrome: risks and rewards of kidney donation
Nephrol. Dial. Transplant., May 1, 2009; 24(5): 1369 - 1370.
[Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
B. R. Migeon
X Inactivation, Female Mosaicism, and Sex Differences in Renal Diseases
J. Am. Soc. Nephrol., November 1, 2008; 19(11): 2052 - 2059.
[Abstract] [Full Text] [PDF]