Home About us Current issue Back issues Submission Instructions Advertise Contact Login   

Search Article 
  
Advanced search 
 
Saudi Journal of Kidney Diseases and Transplantation
Users online: 2853 Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size 


 
CASE REPORT Table of Contents   
Year : 2018  |  Volume : 29  |  Issue : 6  |  Page : 1475-1479
Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome


1 Department of Nephrology, Yashoda Hospitals, Secunderabad, Telangana, India
2 Department of Radiology, Yashoda Hospitals, Secunderabad, Telangana, India
3 Department of Neurology, Yashoda Hospitals, Secunderabad, Telangana, India

Correspondence Address:
Dr. Urmila Anandh
Department of Nephrology, Yashoda Hospitals, Secunderabad -500 003, Telangana
India
Login to access the Email id


DOI: 10.4103/1319-2442.248317

PMID: 30588981

Rights and Permissions

The mutations associated with polycystic kidney disease are closely aligned with that of tuberous sclerosis (TSC) in chromosome 16. Occasionally, the presence of these mutations in an individual can lead to a presence of a disease phenotype with a combination of polycystic kidney disease and TSC (contiguous gene syndrome). We present a case report of a young girl who presented with skin lesions, central nervous system tubers, and cystic disease of the kidneys. She was treated with mammalian target of rapamycin inhibitors with a favorable outcome.


[FULL TEXT] [PDF]*
Print this article  Email this article
    

  Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
   Citation Manager
  Access Statistics
   Reader Comments
   Email Alert *
   Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed520    
    Printed2    
    Emailed0    
    PDF Downloaded47    
    Comments [Add]    

Recommend this journal