KEGG DISEASE: Focal segmental glomerulosclerosis

DISEASE: Focal segmental glomerulosclerosis

Entry

H00626                      Disease

Name

Focal segmental glomerulosclerosis

Subgroup

Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS)

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 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

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]

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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Disease (11)   
   OMIM (11)   
Gene (22)   
   KEGG ORTHOLOGY (11)   
   KEGG GENES (11)   
Literature (12)   
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