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: 2409 Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size 

CASE REPORT Table of Contents   
Year : 2020  |  Volume : 31  |  Issue : 3  |  Page : 676-680
A rare cause of nephrotic syndrome


Department of Nephrology, Government Kilpauk Medical College, Chennai, Tamil Nadu, India

Correspondence Address:
Remi George Thomas
Department of Nephrology, Government Kilpauk Medical College, Chennai, Tamil Nadu
India
Login to access the Email id


DOI: 10.4103/1319-2442.289453

Rights and Permissions

Classical Alport syndrome is a rare X-linked disease of males (85%) presenting early with hematuria, ocular, and hearing defects. Proteinuria and renal failure are less common in the early stages. Here, we report the case of a young female with nephrotic range proteinuria, microscopic hematuria, and renal failure. A keen observation of abundant interstitial foam cells with suspicious glomerular basement membrane changes on kidney biopsy hinted the possibility of Alport syndrome. Further directed testing of the index patient and her family members including genetic analysis revealed a rare pathogenic variant of COL4A homozygous autosomal recessive Alport syndrome. Pedigree analysis showed that the peculiar inheritance could be due to maternal gonadal mosaicism or uniparental isodisomy of paternal genes alone.


[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
    Viewed137    
    Printed5    
    Emailed0    
    PDF Downloaded59    
    Comments [Add]    

Recommend this journal