Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
FSGS is a progressiv glomerular kidney disease that is characterized by scars that form focally, only some glomeruli altered, and segmentally, only parts of the glomerulus affected.
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.
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Philippe A et al. (2008) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 
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Santín S et al. (2009) Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
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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.
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Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
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Gast C et al. (2016) Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
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Chatterjee R et al. (2013) Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.
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Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
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Winn MP et al. (1999) Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.
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Tejani A et al. (1983) Familial focal segmental glomerulosclerosis.
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Conlon PJ et al. (1995) Clinical and pathologic features of familial focal segmental glomerulosclerosis.
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Faubert PF et al. (1997) Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature.
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Mathis BJ et al. (1998) A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13.
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| 13. |
Riehle M et al. (2016) TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
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