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A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.

Genes - 8 May 2024

Graziani Ludovico, Minotti Chiara, Carriero Miriam Lucia, Bengala Mario, Lai Silvia, Terracciano Alessandra, Novelli Antonio, Novelli Giuseppe

Abstract excerpt

Alport Syndrome (AS) is the most common genetic glomerular disease, and it is caused by COL4A3, COL4A4, and COL4A5 pathogenic variants. The classic phenotypic spectrum associated with AS ranges from isolated hematuria to chronic kidney disease (CKD) with extrarenal abnormalities. Atypical presentation of the disorder is possible, and it can mislead the diagnosis. Polycystic kidney disease (PKD), which is most...

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Identifiers

PMID: 38790225
DOI: 10.3390/genes15050597
PMCID: PMC11121527

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