Clinical feature: 

Definition: Glomerulosclerosis describes histomorphological alterations of the kidney characterized by glomerular fibrosis and scars. This is the common end point in several pathological processes affecting the glomerulus. It may occur focal, only some glomeruli altered, and segmental, only parts of the glomerulus affected.

Clinical picture: Proteinuria, glomerular haematuria, and progressive decline of renal function are the dominating clinical symptoms, which start in teenage years and may develop to end-stage renal disease in some individuals.

Literature: 

Conlon PJ et al. (1995) Clinical and pathologic features of familial focal segmental glomerulosclerosis.
Faubert PF et al. (1997) Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature.
Faubert PF et al. (1997) Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature.
Mathis BJ et al. (1998) A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13.
Tejani A et al. (1983) Familial focal segmental glomerulosclerosis.
Winn MP et al. (1999) Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.
Winn MP et al. (1999) Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.
Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Santín S et al. (2009) Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Philippe A et al. (2008) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.