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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

Ellison B, Cader R, Willcocks L
Br J Hosp Med (Lond) 2024 Jul 30;85(7):1-11. doi: 10.12968/hmed.2024.0044. PMID: 39078905
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
Harita Y
Clin Exp Nephrol 2018 Jun;22(3):491-500. Epub 2017 Jul 27 doi: 10.1007/s10157-017-1449-y. PMID: 28752288Free PMC Article

Recent clinical studies

Etiology

Rheault MN, Alpers CE, Barratt J, Bieler S, Canetta P, Chae DW, Coppock G, Diva U, Gesualdo L, Heerspink HJL, Inrig JK, Kirsztajn GM, Kohan D, Komers R, Kooienga LA, Lieberman K, Mercer A, Noronha IL, Perkovic V, Radhakrishnan J, Rote W, Rovin B, Tesar V, Trimarchi H, Tumlin J, Wong MG, Trachtman H; DUPRO Steering Committee and DUPLEX Investigators
N Engl J Med 2023 Dec 28;389(26):2436-2445. Epub 2023 Nov 3 doi: 10.1056/NEJMoa2308550. PMID: 37921461
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
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

Ellison B, Cader R, Willcocks L
Br J Hosp Med (Lond) 2024 Jul 30;85(7):1-11. doi: 10.12968/hmed.2024.0044. PMID: 39078905
Chebotareva N, Vinogradov A, Birukova Y, Alentov I, Sergeeva N, Chemodanova D, Kononikhin AS, Moiseev SV
Nephrology (Carlton) 2024 Feb;29(2):86-92. Epub 2023 Oct 21 doi: 10.1111/nep.14249. PMID: 37864506
Vincenti F, Angeletti A, Ghiggeri GM
Front Immunol 2023;14:1167741. Epub 2023 Jul 12 doi: 10.3389/fimmu.2023.1167741. PMID: 37503337Free PMC Article
O'Shaughnessy MM, Hogan SL, Thompson BD, Coppo R, Fogo AB, Jennette JC
Nephrol Dial Transplant 2018 Apr 1;33(4):661-669. doi: 10.1093/ndt/gfx189. PMID: 29106637Free PMC Article
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

Therapy

Rheault MN, Alpers CE, Barratt J, Bieler S, Canetta P, Chae DW, Coppock G, Diva U, Gesualdo L, Heerspink HJL, Inrig JK, Kirsztajn GM, Kohan D, Komers R, Kooienga LA, Lieberman K, Mercer A, Noronha IL, Perkovic V, Radhakrishnan J, Rote W, Rovin B, Tesar V, Trimarchi H, Tumlin J, Wong MG, Trachtman H; DUPRO Steering Committee and DUPLEX Investigators
N Engl J Med 2023 Dec 28;389(26):2436-2445. Epub 2023 Nov 3 doi: 10.1056/NEJMoa2308550. PMID: 37921461
Vincenti F, Angeletti A, Ghiggeri GM
Front Immunol 2023;14:1167741. Epub 2023 Jul 12 doi: 10.3389/fimmu.2023.1167741. PMID: 37503337Free PMC Article
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
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
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

Boussetta A, Ben Njima K, Jellouli M, Gargah T
Tunis Med 2023 Mar 5;101(3):373-378. PMID: 38263915Free 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
Jellouli M, Abidi K, Askri M, Ferjani M, Naija O, Hammi Y, Goucha R, Gargah T
Tunis Med 2016 May;94(5):356-359. PMID: 27801486
Coppo R, Troyanov S, Bellur S, Cattran D, Cook HT, Feehally J, Roberts IS, Morando L, Camilla R, Tesar V, Lunberg S, Gesualdo L, Emma F, Rollino C, Amore A, Praga M, Feriozzi S, Segoloni G, Pani A, Cancarini G, Durlik M, Moggia E, Mazzucco G, Giannakakis C, Honsova E, Sundelin BB, Di Palma AM, Ferrario F, Gutierrez E, Asunis AM, Barratt J, Tardanico R, Perkowska-Ptasinska A; VALIGA study of the ERA-EDTA Immunonephrology Working Group
Kidney Int 2014 Oct;86(4):828-36. Epub 2014 Apr 2 doi: 10.1038/ki.2014.63. PMID: 24694989Free PMC Article
Shiiki H, Dohi K
Intern Med 2000 Aug;39(8):606-11. doi: 10.2169/internalmedicine.39.606. PMID: 10939532

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
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
Ruggenenti P, Ruggiero B, Cravedi P, Vivarelli M, Massella L, Marasà M, Chianca A, Rubis N, Ene-Iordache B, Rudnicki M, Pollastro RM, Capasso G, Pisani A, Pennesi M, Emma F, Remuzzi G; Rituximab in Nephrotic Syndrome of Steroid-Dependent or Frequently Relapsing Minimal Change Disease Or Focal Segmental Glomerulosclerosis (NEMO) Study Group
J Am Soc Nephrol 2014 Apr;25(4):850-63. Epub 2014 Jan 30 doi: 10.1681/ASN.2013030251. PMID: 24480824Free PMC Article

Recent systematic reviews

Dadgar K, Xue Y, Chung J, Sangar S, Bhatt M, Chan AKC, Geddie H, Chanchlani R
Pediatr Res 2023 May;93(6):1463-1469. Epub 2022 Sep 20 doi: 10.1038/s41390-022-02302-6. PMID: 36127405
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
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

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