Saudi Journal of Kidney Diseases and Transplantation

CASE REPORT
Year
: 2020  |  Volume : 31  |  Issue : 3  |  Page : 676--680

A rare cause of nephrotic syndrome


Remi George Thomas, RP Senthilkumar, Balaraman Velayudham, C Vasudevan, Thirumalvalavan Murugesan 
 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

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.


How to cite this article:
Thomas RG, Senthilkumar R P, Velayudham B, Vasudevan C, Murugesan T. A rare cause of nephrotic syndrome.Saudi J Kidney Dis Transpl 2020;31:676-680


How to cite this URL:
Thomas RG, Senthilkumar R P, Velayudham B, Vasudevan C, Murugesan T. A rare cause of nephrotic syndrome. Saudi J Kidney Dis Transpl [serial online] 2020 [cited 2021 Jul 24 ];31:676-680
Available from: https://www.sjkdt.org/article.asp?issn=1319-2442;year=2020;volume=31;issue=3;spage=676;epage=680;aulast=Thomas;type=0