エントリ 名称 巣状分節性糸球体硬化症
下位グループ 巣状分節性糸球体硬化症および神経発達症候群 (FSGSNEDS)
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
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy 病因遺伝子 コメント Congenital nephrotic syndrome (NS,
H01657 ) and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases.
リンク 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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.
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