U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Focal segmental glomerulosclerosis 7(FSGS7)

MedGen UID:
863362
Concept ID:
C4014925
Disease or Syndrome
Synonym: FSGS7
 
Gene (location): PAX2 (10q24.31)
 
Monarch Initiative: MONDO:0014451
OMIM®: 616002

Definition

Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some, but not all, glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by Barua et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). [from OMIM]

Clinical features

From HPO
Focal segmental glomerulosclerosis
MedGen UID:
4904
Concept ID:
C0017668
Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.

Professional guidelines

PubMed

He Y, Fang W, Li Z, Wang C
Invest New Drugs 2022 Oct;40(5):1153-1159. Epub 2022 Jul 22 doi: 10.1007/s10637-022-01288-6. PMID: 35867286
Aoun M, Halabi C, Ammar W
Saudi J Kidney Dis Transpl 2021 Jul-Aug;32(4):1089-1100. doi: 10.4103/1319-2442.338282. PMID: 35229808
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Pediatr Nephrol 2019 Jul;34(7):1175-1189. Epub 2018 Jul 9 doi: 10.1007/s00467-018-3985-4. PMID: 29987460

Recent clinical studies

Etiology

Egbuna O, Zimmerman B, Manos G, Fortier A, Chirieac MC, Dakin LA, Friedman DJ, Bramham K, Campbell K, Knebelmann B, Barisoni L, Falk RJ, Gipson DS, Lipkowitz MS, Ojo A, Bunnage ME, Pollak MR, Altshuler D, Chertow GM; VX19-147-101 Study Group
N Engl J Med 2023 Mar 16;388(11):969-979. doi: 10.1056/NEJMoa2202396. PMID: 36920755
Tidmas V, Brazier J, Hawkins J, Forbes SC, Bottoms L, Farrington K
Int J Environ Res Public Health 2022 Apr 3;19(7) doi: 10.3390/ijerph19074288. PMID: 35409969Free PMC Article
Hodson EM, Sinha A, Cooper TE
Cochrane Database Syst Rev 2022 Feb 28;2(2):CD003233. doi: 10.1002/14651858.CD003233.pub3. PMID: 35224732Free PMC Article
Wheeler DC, Jongs N, Stefansson BV, Chertow GM, Greene T, Hou FF, Langkilde AM, McMurray JJV, Rossing P, Nowicki M, Wittmann I, Correa-Rotter R, Sjöström CD, Toto RD, Heerspink HJL; DAPA-CKD Trial Committees and Investigators
Nephrol Dial Transplant 2022 Aug 22;37(9):1647-1656. doi: 10.1093/ndt/gfab335. PMID: 34850160Free PMC Article
Wang H, Cheng X, Tian J, Xiao Y, Tian T, Xu F, Hong X, Zhu MX
Pharmacol Ther 2020 May;209:107497. Epub 2020 Jan 28 doi: 10.1016/j.pharmthera.2020.107497. PMID: 32004513Free PMC Article

Diagnosis

Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K
Kidney360 2022 Aug 25;3(8):1384-1393. Epub 2022 May 24 doi: 10.34067/KID.0000812022. PMID: 36176665Free PMC Article
Baskın E, Avcı B, Gülleroğlu K, Akdur A, Moray G, Haberal M
Exp Clin Transplant 2022 Mar;20(Suppl 1):55-60. doi: 10.6002/ect.MESOT2021.O24. PMID: 35384808
Sprangers B, Meijers B, Appel G
Biomed Res Int 2016;2016:4632768. Epub 2016 May 24 doi: 10.1155/2016/4632768. PMID: 27314022Free PMC Article
Gheith O, Hassan R
Iran J Kidney Dis 2013 Jul;7(4):257-64. PMID: 23880801
Rambausek M, Hartz G, Waldherr R, Andrassy K, Ritz E
Pediatr Nephrol 1987 Jul;1(3):416-8. doi: 10.1007/BF00849246. PMID: 3153310

Therapy

Egbuna O, Zimmerman B, Manos G, Fortier A, Chirieac MC, Dakin LA, Friedman DJ, Bramham K, Campbell K, Knebelmann B, Barisoni L, Falk RJ, Gipson DS, Lipkowitz MS, Ojo A, Bunnage ME, Pollak MR, Altshuler D, Chertow GM; VX19-147-101 Study Group
N Engl J Med 2023 Mar 16;388(11):969-979. doi: 10.1056/NEJMoa2202396. PMID: 36920755
Zee J, Liu Q, Smith AR, Hodgin JB, Rosenberg A, Gillespie BW, Holzman LB, Barisoni L, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE); NEPTUNE Members
J Am Soc Nephrol 2022 Jul;33(7):1411-1426. Epub 2022 May 17 doi: 10.1681/ASN.2021101396. PMID: 35581011Free PMC Article
Hodson EM, Sinha A, Cooper TE
Cochrane Database Syst Rev 2022 Feb 28;2(2):CD003233. doi: 10.1002/14651858.CD003233.pub3. PMID: 35224732Free PMC Article
Wheeler DC, Jongs N, Stefansson BV, Chertow GM, Greene T, Hou FF, Langkilde AM, McMurray JJV, Rossing P, Nowicki M, Wittmann I, Correa-Rotter R, Sjöström CD, Toto RD, Heerspink HJL; DAPA-CKD Trial Committees and Investigators
Nephrol Dial Transplant 2022 Aug 22;37(9):1647-1656. doi: 10.1093/ndt/gfab335. PMID: 34850160Free PMC Article
Hansrivijit P, Cheungpasitporn W, Thongprayoon C, Ghahramani N
BMC Nephrol 2020 Apr 15;21(1):134. doi: 10.1186/s12882-020-01797-7. PMID: 32293308Free PMC Article

Prognosis

Zee J, Liu Q, Smith AR, Hodgin JB, Rosenberg A, Gillespie BW, Holzman LB, Barisoni L, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE); NEPTUNE Members
J Am Soc Nephrol 2022 Jul;33(7):1411-1426. Epub 2022 May 17 doi: 10.1681/ASN.2021101396. PMID: 35581011Free PMC Article
Tidmas V, Brazier J, Hawkins J, Forbes SC, Bottoms L, Farrington K
Int J Environ Res Public Health 2022 Apr 3;19(7) doi: 10.3390/ijerph19074288. PMID: 35409969Free PMC Article
Fadel FI, Bazaraa HM, Abdel Mawla MA, Salah DM
Ital J Pediatr 2021 Dec 14;47(1):236. doi: 10.1186/s13052-021-01188-0. PMID: 34906202Free PMC Article
Zhu Y, Fan Y, Xu F, Liang S, Liang D, Li P, Xia Y, Zhu X, Yang F, Chen J, Zeng C
Am J Nephrol 2021;52(10-11):788-797. Epub 2021 Nov 8 doi: 10.1159/000519648. PMID: 34749369
Swarnalatha G, Ram R, Ismal KM, Vali S, Sahay M, Dakshinamurty KV
Saudi J Kidney Dis Transpl 2015 Jan;26(1):173-81. doi: 10.4103/1319-2442.148772. PMID: 25579744

Clinical prediction guides

Egbuna O, Zimmerman B, Manos G, Fortier A, Chirieac MC, Dakin LA, Friedman DJ, Bramham K, Campbell K, Knebelmann B, Barisoni L, Falk RJ, Gipson DS, Lipkowitz MS, Ojo A, Bunnage ME, Pollak MR, Altshuler D, Chertow GM; VX19-147-101 Study Group
N Engl J Med 2023 Mar 16;388(11):969-979. doi: 10.1056/NEJMoa2202396. PMID: 36920755
Zee J, Liu Q, Smith AR, Hodgin JB, Rosenberg A, Gillespie BW, Holzman LB, Barisoni L, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE); NEPTUNE Members
J Am Soc Nephrol 2022 Jul;33(7):1411-1426. Epub 2022 May 17 doi: 10.1681/ASN.2021101396. PMID: 35581011Free PMC Article
Tidmas V, Brazier J, Hawkins J, Forbes SC, Bottoms L, Farrington K
Int J Environ Res Public Health 2022 Apr 3;19(7) doi: 10.3390/ijerph19074288. PMID: 35409969Free PMC Article
Hansrivijit P, Cheungpasitporn W, Thongprayoon C, Ghahramani N
BMC Nephrol 2020 Apr 15;21(1):134. doi: 10.1186/s12882-020-01797-7. PMID: 32293308Free PMC Article
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Pediatr Nephrol 2019 Jul;34(7):1175-1189. Epub 2018 Jul 9 doi: 10.1007/s00467-018-3985-4. PMID: 29987460

Recent systematic reviews

Hodson EM, Sinha A, Cooper TE
Cochrane Database Syst Rev 2022 Feb 28;2(2):CD003233. doi: 10.1002/14651858.CD003233.pub3. PMID: 35224732Free PMC Article
Wang YT, Zhang RQ, Wang SF, Li XC, Zhang N, Zhao YF, Wang Y, Yu XY, Qu K
Medicine (Baltimore) 2021 Feb 19;100(7):e24799. doi: 10.1097/MD.0000000000024799. PMID: 33607841Free PMC Article
Hansrivijit P, Cheungpasitporn W, Thongprayoon C, Ghahramani N
BMC Nephrol 2020 Apr 15;21(1):134. doi: 10.1186/s12882-020-01797-7. PMID: 32293308Free PMC Article
Jellouli M, Charfi R, Maalej B, Mahfoud A, Trabelsi S, Gargah T
J Pediatr 2018 Jun;197:191-197.e1. Epub 2018 Apr 18 doi: 10.1016/j.jpeds.2018.01.008. PMID: 29680473
Kashgary A, Sontrop JM, Li L, Al-Jaishi AA, Habibullah ZN, Alsolaimani R, Clark WF
BMC Nephrol 2016 Jul 29;17(1):104. doi: 10.1186/s12882-016-0322-7. PMID: 27473582Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...