Focal segmental glomerulosclerosis

Definition:

Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting with high-grade proteinuria, associated with lesions of focal and segmental glomerular sclerosis and foot-process effacement. As the disease progresses, a more diffuse and global pattern of sclerosis evolves. FSGS accounts for 7-20 % of idiopathic nephrotic syndrome in children and 40 % in adults. There are two types of FSGS, primary (idiopathic) and secondary forms. The specific cause of primary FSGS has been ill-defined. Secondary FSGS is with recognized etiologic associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended.

References:

[1]. Caterina Mele, et al. MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med. 2011 Jul 28;365(4):295-306. [Content Brief]

[2]. Elizabeth J Brown, et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2010 Jan;42(1):72-6. [Content Brief]

[3]. Giulio Genovese, et al. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010 Aug 13;329(5993):841-5. [Content Brief]

[4]. Lwaki Ebarasi, et al. Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015 Jan 8;96(1):153-61. [Content Brief]

[5]. M M Löwik, et al. Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int. 2007 Nov;72(10):1198-203. [Content Brief]

[6]. M M Löwik, et al. Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review. Eur J Pediatr. 2009 Nov;168(11):1291-304. [Content Brief]

[7]. Martin A McClatchey, et al. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. Eur J Med Genet. 2020 Sep;63(9):103972. [Content Brief]

[8]. Michelle P Winn, et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science. 2005 Jun 17;308(5729):1801-4. [Content Brief]

[9]. Moumita Barua, et al. Mutations in PAX2 associate with adult-onset FSGS. J Am Soc Nephrol. 2014 Sep;25(9):1942-53. [Content Brief]

[10]. Olivia Boyer, et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013 Jul;24(8):1216-22. [Content Brief]

[11]. Rasheed A Gbadegesin, et al. Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. J Am Soc Nephrol. 2014 Sep;25(9):1991-2002. [Content Brief]

[12]. Vivette D D'Agati, et al. Pathologic classification of focal segmental glomerulosclerosis: a working proposal. Am J Kidney Dis. 2004 Feb;43(2):368-82. [Content Brief]

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