A rare cause of nephrotic syndrome.
PMID 32655053 | DOI 10.4103/1319-2442.289453 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2020
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | nephrotic syndrome | “A rare cause of nephrotic syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Alport syndrome | “Classical Alport syndrome is a rare X-linked disease of males (85%) presenting early with hematuria, ocular, and hearing defects.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “Proteinuria and renal failure are less common in the early stages.” | 0.98 | phenotype_alias_lexicon_v2 |