Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glomerulosclerosis

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 Findings

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.

Systematic

Hereditary glomerular disease
Fibronectin glomerulopathy
Glomerulonephritis
Glomerulosclerosis
Familial partial lipodystrophy type 2
LMNA
Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
TRPC6
Hereditary FSGS type 3
CD2AP
Hereditary FSGS type 4
APOL1
Hereditary FSGS type 5
INF2
Hereditary FSGS type 6
MYO1E
Hereditary FSGS type 7
PAX2
ITGA9
LAMA5
NXF5
Frasier syndrome
WT1
Glycogen storage disease 1A
G6PC
Norum disease
LCAT
Lipoprotein glomerulopathy
Myoclonus-nephropathy syndrome
Nephritic syndrome
Nephrotic syndrome

References:

1.

Philippe A et al. (2008) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

[^]
2.

Santín S et al. (2009) Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

[^]
3.

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.

[^]
4.

Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

[^]
5.

Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

[^]
6.

Winn MP et al. (1999) Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.

[^]
7.

Tejani A et al. (1983) Familial focal segmental glomerulosclerosis.

[^]
8.

Conlon PJ et al. (1995) Clinical and pathologic features of familial focal segmental glomerulosclerosis.

[^]
9.

Faubert PF et al. (1997) Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature.

[^]
10.

Mathis BJ et al. (1998) A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13.

[^]
Update: Sept. 26, 2018