| H00626 | |
| H number | H00626 |
| Name | Focal segmental glomerulosclerosis |
| Description | 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. |
| Category | Urinary system disease |
| Network | - |
| Gene | (FSGS1) ACTN4 [HSA:81] [KO:K05699] (FSGS2) TRPC6 [HSA:7225] [KO:K04969] (FSGS3) CD2AP [HSA:23607] [KO:K13738] (FSGS4) APOL1 [HSA:8542] [KO:K23585] (FSGS5) INF2 [HSA:64423] [KO:K23958] (FSGS6) MYO1E [HSA:4643] [KO:K10356] (FSGS7) PAX2 [HSA:5076] [KO:K15608] (FSGS8) ANLN [HSA:54443] [KO:K18621] (FSGS9) CRB2 [HSA:286204] [KO:K16681] (FSGS10) LMX1B [HSA:4010] [KO:K09371] (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Congenital nephrotic syndrome (NS, H01657) and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases. |
| Other DBs | ICD-11: MF8Y ICD-10: N05.1 MeSH: D005923 OMIM: 603278 603965 607832 612551 613237 614131 616002 616032 616220 256020 619428 |
| Reference | PMID:19562370 AUTHORS Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP TITLE Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review. JOURNAL Eur J Pediatr 168:1291-304 (2009) DOI:10.1007/s00431-009-1017-x PMID:14750104 (FSGS1) AUTHORS D'Agati VD, Fogo AB, Bruijn JA, Jennette JC TITLE Pathologic classification of focal segmental glomerulosclerosis: a working proposal. JOURNAL Am J Kidney Dis 43:368-82 (2004) DOI:10.1053/j.ajkd.2003.10.024 PMID:15879175 (FSGS2) AUTHORS Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB TITLE A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. JOURNAL Science 308:1801-4 (2005) DOI:10.1126/science.1106215 PMID:17713465 (FSGS3) AUTHORS Lowik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP TITLE Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. JOURNAL Kidney Int 72:1198-203 (2007) DOI:10.1038/sj.ki.5002469 PMID:20647424 (FSGS4) AUTHORS Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR TITLE Association of trypanolytic ApoL1 variants with kidney disease in African Americans. JOURNAL Science 329:841-5 (2010) DOI:10.1126/science.1193032 PMID:20023659 (FSGS5) AUTHORS Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR TITLE Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. JOURNAL Nat Genet 42:72-6 (2010) DOI:10.1038/ng.505 PMID:21756023 (FSGS6) AUTHORS Mele C, Iatropoulos P, Donadelli R, Calabria A, Maranta R, Cassis P, Buelli S, Tomasoni S, Piras R, Krendel M, Bettoni S, Morigi M, Delledonne M, Pecoraro C, Abbate I, Capobianchi MR, Hildebrandt F, Otto E, Schaefer F, Macciardi F, Ozaltin F, Emre S, Ibsirlioglu T, Benigni A, Remuzzi G, Noris M TITLE MYO1E mutations and childhood familial focal segmental glomerulosclerosis. JOURNAL N Engl J Med 365:295-306 (2011) DOI:10.1056/NEJMoa1101273 PMID:24676634 (FSGS7) AUTHORS Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR TITLE Mutations in PAX2 associate with adult-onset FSGS. JOURNAL J Am Soc Nephrol 25:1942-53 (2014) DOI:10.1681/ASN.2013070686 PMID:24676636 (FSGS8) AUTHORS Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP TITLE Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. JOURNAL J Am Soc Nephrol 25:1991-2002 (2014) DOI:10.1681/ASN.2013090976 PMID:25557779 (FSGS9) AUTHORS Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A TITLE Defects of CRB2 cause steroid-resistant nephrotic syndrome. JOURNAL Am J Hum Genet 96:153-61 (2015) DOI:10.1016/j.ajhg.2014.11.014 PMID:23687361 (FSGS10) AUTHORS Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tete MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschke P, Gubler MC, Johnson KJ, Chibout SD, Antignac C TITLE LMX1B mutations cause hereditary FSGS without extrarenal involvement. JOURNAL J Am Soc Nephrol 24:1216-22 (2013) DOI:10.1681/ASN.2013020171 PMID:32531461 (FSGSNEDS) AUTHORS McClatchey MA, du Toit ZD, Vaughan R, Whatley SD, Martins S, Hegde S, Naude JTW, Thomas DH, Griffiths DF, Genomics England Research Consortium, Clarke AJ, Fry AE TITLE Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. JOURNAL Eur J Med Genet 63:103972 (2020) DOI:10.1016/j.ejmg.2020.103972 |