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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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.
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
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.
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

Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.
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
Genetic Disorders of the Glomerular Filtration Barrier.
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
Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
HIV-associated nephropathy: pathogenesis.
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
Association of trypanolytic ApoL1 variants with kidney disease in African Americans.
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

Genetic Disorders of the Glomerular Filtration Barrier.
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
Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
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
HIV-associated nephropathy: a brief review.
Lu TC, Ross M
Mt Sinai J Med 2005 May;72(3):193-9. PMID: 15915314

Therapy

Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.
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
Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
Recurrence of focal segmental glomerulosclerosis after kidney transplantation: strategies and outcome.
Ulinski T
Curr Opin Organ Transplant 2010 Oct;15(5):628-32. doi: 10.1097/MOT.0b013e32833dee3a. PMID: 20733489
HIV and the kidney: a status report after 20 years.
Cho ME, Kopp JB
Curr HIV/AIDS Rep 2004 Sep;1(3):109-15. doi: 10.1007/s11904-004-0016-9. PMID: 16091230
The development of proteinuria and focal-segmental glomerulosclerosis in recipients of pediatric donor kidneys.
Hayes JM, Steinmuller DR, Streem SB, Novick AC
Transplantation 1991 Nov;52(5):813-7. doi: 10.1097/00007890-199111000-00011. PMID: 1949166

Prognosis

Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
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
Genetic basis of nephrotic syndrome--review.
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799
HIV-associated nephropathy: a brief review.
Lu TC, Ross M
Mt Sinai J Med 2005 May;72(3):193-9. PMID: 15915314
HIV and the kidney: a status report after 20 years.
Cho ME, Kopp JB
Curr HIV/AIDS Rep 2004 Sep;1(3):109-15. doi: 10.1007/s11904-004-0016-9. PMID: 16091230

Clinical prediction guides

Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.
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
TRPC6 Mutational Analysis in Iranian Children With Focal Segmental Glomerulosclerosis.
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
Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
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
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.
Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Mokrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA
Nat Genet 2008 Oct;40(10):1175-84. Epub 2008 Sep 14 doi: 10.1038/ng.226. PMID: 18794856Free PMC Article

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