Refractory focal segmental glomerulosclerosis caused by Alport syndrome detected by genetic testing after three decades.

Abstract excerpt

A woman in her 50s with a three-decade history of biopsy-proven focal segmental glomerulosclerosis and a family history of end-stage kidney disease presented with worsening proteinuria and declining kidney function after three decades of immunosuppressive therapy. While a repeat kidney biopsy did not reveal findings diagnostic of Alport syndrome, genetic testing demonstrated a heterozygous mutation in COL4A5,...

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