Synopsis

Localized anywhere, defined by obliteration of capillary lumen and increased matrix, extensive foot process effacement by EM.

Early lesions

 small peripheral foci of segmental glomerulosclerosis
 well-defined peripheral segmental sclerosis
 glomerular intracapillary foam cells
 prominence of overlying visceral epithelial cells.
 surrounding mild interstitial fibrosis
 mild enlargment of sclerosed glomeruli

Advanced lesions

 diffuse glomerulosclerosis
 moderate to severe renal interstitial fibrosis
 renal tubular atrophy
 increased mesangial matrix
 obliteration of glomerular capillaries

Etiology

 idiopathic FSGS
 WT1-associated FSGS

• WT1 splice site mutation (#14646409#)

 TRPC6-associated FSGS

• germline mutations in TRPC6 cause focal segmental glomerulosclerosis

Susceptibility loci

 9q31-q32 (#12840782#)

See also

 glomerulosclerosis

References

 Kriz W. TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis. Trends Mol Med. 2005 Dec;11(12):527-30. PMID: #16290061#