Wcn24-802 Alport Syndrome With Podocytopathy

Children diagnosed with Alport syndrome (AS), an inherited kidney disorder, often display symptoms [1] such as hematuria, proteinuria, and progressive renal failure. Some patients with AS may also experience additional complications such as high-frequency sensorineural hearing loss, visual impairments, and other extrarenal symptoms. Nephrotic syndrom ein Alport's can be due to FSGS as part of the spectrumor due to podocyte depletion. Malone et al. performed nextgeneration sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy.