KEGG   DISEASE: Focal segmental glomerulosclerosisHelp
Entry
H00626                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00626  Focal segmental glomerulosclerosis
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the genitourinary system
   Clinical findings in specimens from the urinary system
    MF8Y  Other specified clinical findings in specimens from the urinary system
     H00626  Focal segmental glomerulosclerosis
BRITE hierarchy
Gene
(FSGS1) ACTN4 [HSA:81] [KO:K05699]
(FSGS2) TRPC6 [HSA:7225] [KO:K04969]
(FSGS3) CD2AP [HSA:23607] [KO:K13738]
(FSGS4) APOL1 [HSA:8542] [KO:K14480]
(FSGS5) INF2 [HSA:64423]
(FSGS6) MYO1E [HSA:4643] [KO:K10356]
(FSGS7) PAX2 [HSA:5076] [KO:K15608]
(FSGS8) ANLN [HSA:54443] [KO:K18621]
(FSGS9) CRB2 [HSA:286204] [KO:K16681]
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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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

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