Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.
Level V
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- Record sourced from PubMed, PMID 25427084.
- Also identified by DOI 10.1038/ki.2014.326 and PMC identifier 4246419.
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Abstract
Malone et al. performed next-generation 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. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.
Medical subject headings
- Autoantigens
- Collagen Type IV
- Glomerulosclerosis, Focal Segmental