| H00626 | |
| H番号 | H00626 |
| 名称 | 巣状分節性糸球体硬化症 |
| 概要 | 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. |
| カテゴリ | 泌尿器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Congenital nephrotic syndrome (NS, H01657) and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases. |
| リンク | ICD-11: MF8Y ICD-10: N05.1 MeSH: D005923 OMIM: 603278 603965 607832 612551 613237 614131 616002 616032 616220 256020 619428 |
| 文献 | PMID:19562370 著者 Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP タイトル Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review. 雑誌 Eur J Pediatr 168:1291-304 (2009) DOI:10.1007/s00431-009-1017-x PMID:14750104 (FSGS1) 著者 D'Agati VD, Fogo AB, Bruijn JA, Jennette JC タイトル Pathologic classification of focal segmental glomerulosclerosis: a working proposal. 雑誌 Am J Kidney Dis 43:368-82 (2004) DOI:10.1053/j.ajkd.2003.10.024 PMID:15879175 (FSGS2) 著者 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 タイトル A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 雑誌 Science 308:1801-4 (2005) DOI:10.1126/science.1106215 PMID:17713465 (FSGS3) 著者 Lowik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP タイトル Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 雑誌 Kidney Int 72:1198-203 (2007) DOI:10.1038/sj.ki.5002469 PMID:20647424 (FSGS4) 著者 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 タイトル Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 雑誌 Science 329:841-5 (2010) DOI:10.1126/science.1193032 PMID:20023659 (FSGS5) 著者 Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR タイトル Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 雑誌 Nat Genet 42:72-6 (2010) DOI:10.1038/ng.505 PMID:21756023 (FSGS6) 著者 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 タイトル MYO1E mutations and childhood familial focal segmental glomerulosclerosis. 雑誌 N Engl J Med 365:295-306 (2011) DOI:10.1056/NEJMoa1101273 PMID:24676634 (FSGS7) 著者 Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR タイトル Mutations in PAX2 associate with adult-onset FSGS. 雑誌 J Am Soc Nephrol 25:1942-53 (2014) DOI:10.1681/ASN.2013070686 PMID:24676636 (FSGS8) 著者 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 タイトル Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 雑誌 J Am Soc Nephrol 25:1991-2002 (2014) DOI:10.1681/ASN.2013090976 PMID:25557779 (FSGS9) 著者 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 タイトル Defects of CRB2 cause steroid-resistant nephrotic syndrome. 雑誌 Am J Hum Genet 96:153-61 (2015) DOI:10.1016/j.ajhg.2014.11.014 PMID:23687361 (FSGS10) 著者 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 タイトル LMX1B mutations cause hereditary FSGS without extrarenal involvement. 雑誌 J Am Soc Nephrol 24:1216-22 (2013) DOI:10.1681/ASN.2013020171 PMID:32531461 (FSGSNEDS) 著者 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 タイトル Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. 雑誌 Eur J Med Genet 63:103972 (2020) DOI:10.1016/j.ejmg.2020.103972 |