Combined Alport Syndrome Type 3A and Mitochondrial Disease Presenting with a Thin Base Membrane and Overt Albuminuria.

Abstract excerpt

Autosomal dominant Alport syndrome (ADAS), which leads to kidney dysfunction, is primarily associated with heterozygous mutations in COL4A3/4. Mitochondrial disease can also lead to kidney dysfunction. We report a rare case of a 29-year-old woman with ADAS and mitochondrial nephropathy, identified through a genetic analysis, revealing a novel in-frame deletion in COL4A3 and a mitochondrial m.3243A>G mutation....

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