A rare cause of nephrotic syndrome
Joint Authors
Velayudham, Balaraman
Thomas, Remi George
Vasudevan, C.
Senthilkumar, R. P.
Thirumalvalavan, Murugesan
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 31, Issue 3 (30 Jun. 2020), pp.676-680, 5 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2020-06-30
Country of Publication
Saudi Arabia
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Thomas, Remi George& Senthilkumar, R. P.& Velayudham, Balaraman& Vasudevan, C.& Thirumalvalavan, Murugesan. 2020. A rare cause of nephrotic syndrome. Saudi Journal of Kidney Diseases and Transplantation،Vol. 31, no. 3, pp.676-680.
https://search.emarefa.net/detail/BIM-1333606
Modern Language Association (MLA)
Thomas, Remi George…[et al.]. A rare cause of nephrotic syndrome. Saudi Journal of Kidney Diseases and Transplantation Vol. 31, no. 3 (May. / Jun. 2020), pp.676-680.
https://search.emarefa.net/detail/BIM-1333606
American Medical Association (AMA)
Thomas, Remi George& Senthilkumar, R. P.& Velayudham, Balaraman& Vasudevan, C.& Thirumalvalavan, Murugesan. A rare cause of nephrotic syndrome. Saudi Journal of Kidney Diseases and Transplantation. 2020. Vol. 31, no. 3, pp.676-680.
https://search.emarefa.net/detail/BIM-1333606
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 680
Record ID
BIM-1333606