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Focal segmental glomerulosclerosis 3, susceptibility to(FSGS3)

MedGen UID:
335850
Concept ID:
C1842982
Finding
Synonym: FSGS3
 
Gene (location): CD2AP (6p12.3)
 
Monarch Initiative: MONDO:0011917
OMIM®: 607832

Definition

Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005). 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.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.

Professional guidelines

PubMed

Swanepoel CR, Atta MG, D'Agati VD, Estrella MM, Fogo AB, Naicker S, Post FA, Wearne N, Winkler CA, Cheung M, Wheeler DC, Winkelmayer WC, Wyatt CM; Conference Participants
Kidney Int 2018 Mar;93(3):545-559. Epub 2018 Feb 3 doi: 10.1016/j.kint.2017.11.007. PMID: 29398134Free PMC Article
Li Y, Wang Y, He Q, Dang X, Cao Y, Wu X, Mo S, He X, Yi Z
Mol Med Rep 2018 Jan;17(1):1513-1526. Epub 2017 Nov 10 doi: 10.3892/mmr.2017.8023. PMID: 29138824Free PMC Article
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

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
Li AS, Ingham JF, Lennon R
Clin J Am Soc Nephrol 2020 Dec 7;15(12):1818-1828. Epub 2020 Mar 23 doi: 10.2215/CJN.11440919. PMID: 32205319Free PMC Article
Swanepoel CR, Atta MG, D'Agati VD, Estrella MM, Fogo AB, Naicker S, Post FA, Wearne N, Winkler CA, Cheung M, Wheeler DC, Winkelmayer WC, Wyatt CM; Conference Participants
Kidney Int 2018 Mar;93(3):545-559. Epub 2018 Feb 3 doi: 10.1016/j.kint.2017.11.007. PMID: 29398134Free PMC Article
Medapalli RK, He JC, Klotman PE
Curr Opin Nephrol Hypertens 2011 May;20(3):306-11. doi: 10.1097/MNH.0b013e328345359a. PMID: 21358326Free PMC Article
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
Science 2010 Aug 13;329(5993):841-5. Epub 2010 Jul 15 doi: 10.1126/science.1193032. PMID: 20647424Free PMC Article

Diagnosis

Li AS, Ingham JF, Lennon R
Clin J Am Soc Nephrol 2020 Dec 7;15(12):1818-1828. Epub 2020 Mar 23 doi: 10.2215/CJN.11440919. PMID: 32205319Free PMC Article
Gheissari A, Meamar R, Kheirollahi M, Rouigari M, Dehbashi M, Dehghani L, Abedini A
Iran J Kidney Dis 2018 Nov;12(6):341-349. PMID: 30595563
Swanepoel CR, Atta MG, D'Agati VD, Estrella MM, Fogo AB, Naicker S, Post FA, Wearne N, Winkler CA, Cheung M, Wheeler DC, Winkelmayer WC, Wyatt CM; Conference Participants
Kidney Int 2018 Mar;93(3):545-559. Epub 2018 Feb 3 doi: 10.1016/j.kint.2017.11.007. PMID: 29398134Free PMC Article
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
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391

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
Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N
Ann Neurol 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370. PMID: 30427554
Swanepoel CR, Atta MG, D'Agati VD, Estrella MM, Fogo AB, Naicker S, Post FA, Wearne N, Winkler CA, Cheung M, Wheeler DC, Winkelmayer WC, Wyatt CM; Conference Participants
Kidney Int 2018 Mar;93(3):545-559. Epub 2018 Feb 3 doi: 10.1016/j.kint.2017.11.007. PMID: 29398134Free PMC Article
Ulinski T
Curr Opin Organ Transplant 2010 Oct;15(5):628-32. doi: 10.1097/MOT.0b013e32833dee3a. PMID: 20733489
Cho ME, Kopp JB
Curr HIV/AIDS Rep 2004 Sep;1(3):109-15. doi: 10.1007/s11904-004-0016-9. PMID: 16091230

Prognosis

Gheissari A, Meamar R, Kheirollahi M, Rouigari M, Dehbashi M, Dehghani L, Abedini A
Iran J Kidney Dis 2018 Nov;12(6):341-349. PMID: 30595563
Swanepoel CR, Atta MG, D'Agati VD, Estrella MM, Fogo AB, Naicker S, Post FA, Wearne N, Winkler CA, Cheung M, Wheeler DC, Winkelmayer WC, Wyatt CM; Conference Participants
Kidney Int 2018 Mar;93(3):545-559. Epub 2018 Feb 3 doi: 10.1016/j.kint.2017.11.007. PMID: 29398134Free PMC Article
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Kopp JB
Curr Opin Nephrol Hypertens 2013 May;22(3):266-72. doi: 10.1097/MNH.0b013e3283600f8c. PMID: 23470819Free PMC Article
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799

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
Gheissari A, Meamar R, Kheirollahi M, Rouigari M, Dehbashi M, Dehghani L, Abedini A
Iran J Kidney Dis 2018 Nov;12(6):341-349. PMID: 30595563
Swanepoel CR, Atta MG, D'Agati VD, Estrella MM, Fogo AB, Naicker S, Post FA, Wearne N, Winkler CA, Cheung M, Wheeler DC, Winkelmayer WC, Wyatt CM; Conference Participants
Kidney Int 2018 Mar;93(3):545-559. Epub 2018 Feb 3 doi: 10.1016/j.kint.2017.11.007. PMID: 29398134Free PMC Article
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Satko SG, Freedman BI
Curr Opin Nephrol Hypertens 2004 May;13(3):337-41. doi: 10.1097/00041552-200405000-00012. PMID: 15073494

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