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
Kidney disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00626  Focal segmental glomerulosclerosis
Human diseases in ICD-10 classification [BR:br08403]
 14. Diseases of the genitourinary system (N00-N99)
  N00-N08  Glomerular diseases
   N05  Unspecified nephritic syndrome
    H00626  Focal segmental glomerulosclerosis
BRITE hierarchy
Gene
ACTN4 [HSA:81] [KO:K05699]
TRPC6 [HSA:7225] [KO:K04969]
CD2AP [HSA:23607] [KO:K13738]
APOL1 [HSA:8542] [KO:K14480]
INF2 [HSA:64423]
NPHS1 [HSA:4868]
PDCN [HSA:7827] [KO:K18268]
WT1 [HSA:7490] [KO:K09234]
Env factor
Heroin [DR: D07286 D07810]
Interferon-alpha
Lithium [DR:D00801 D04750]
Pamidronate [DR:D00941]
Pathogen
Human immunodeficiency virus 1 (HIV-1) [GN:T40001]
Parvovirus B19
Drug
Prednisolone [DR:D00472]
Cyclosporine [DR:D00184]
Cyclophosphamide [DR:D00287]
Rituximab [DR:D02994]
Comment
Congenital nephrotic syndrome (NS) and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases. See also H01657 Nephrotic syndrome.
Other DBs
Reference
PMID:26156092 (gene, env_factor, pathogen, drug)
  Authors
Chen YM, Liapis H
  Title
Focal segmental glomerulosclerosis: molecular genetics and targeted therapies.
  Journal
BMC Nephrol 16:101 (2015)
Reference
PMID:27088082 (gene, env_factor, pathogen)
  Authors
Kim JS, Han BG, Choi SO, Cha SK
  Title
Secondary Focal Segmental Glomerulosclerosis: From Podocyte Injury to Glomerulosclerosis.
  Journal
Biomed Res Int 2016:1630365 (2016)
Reference
PMID:19562370 (gene, description)
  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)
Reference
PMID:14750104 (gene)
  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)
Reference
PMID:15716334 (drug)
  Authors
Troyanov S, Wall CA, Miller JA, Scholey JW, Cattran DC
  Title
Focal and segmental glomerulosclerosis: definition and relevance of a partial remission.
  Journal
J Am Soc Nephrol 16:1061-8 (2005)

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