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Saudi Journal of Kidney Diseases and Transplantation
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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
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DOI: 10.4103/1319-2442.289453

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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.

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