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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
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
APOL1 kidney risk alleles: population genetics and disease associations.
Limou S, Nelson GW, Kopp JB, Winkler CA
Adv Chronic Kidney Dis 2014 Sep;21(5):426-33. doi: 10.1053/j.ackd.2014.06.005. PMID: 25168832Free 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

IgA nephropathy and kidney transplantation according to the Oxford classification.
Vasconcelos AS, Mazzali M, de Sousa MV
J Bras Nefrol 2023 Jul-Sep;45(3):350-356. doi: 10.1590/2175-8239-JBN-2022-0051en. PMID: 36626310Free PMC Article
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

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
IgA nephropathy and kidney transplantation according to the Oxford classification.
Vasconcelos AS, Mazzali M, de Sousa MV
J Bras Nefrol 2023 Jul-Sep;45(3):350-356. doi: 10.1590/2175-8239-JBN-2022-0051en. PMID: 36626310Free 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
Pauci-immune crescentic glomerulonephritis without ANCA in a patient presenting with Candida parapsilosis endocarditis.
Scemla A, Charlier C, Noel LH, Amazzough K, Von Rosen FT, Lesavre P, Lortholary O
Med Mal Infect 2016 May;46(3):163-5. Epub 2016 Feb 17 doi: 10.1016/j.medmal.2016.01.004. PMID: 26897307
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

Prognosis

Case Report: Renal Failure due to Focal Segmental Glomerulosclerosis in a Patient with Murine Typhus.
Blanton LS, Berman MA, Afrouzian M
Am J Trop Med Hyg 2020 Sep;103(3):1017-1019. doi: 10.4269/ajtmh.20-0116. PMID: 32588799Free 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
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
Rethinking hypertensive kidney disease: arterionephrosclerosis as a genetic, metabolic, and inflammatory disorder.
Kopp JB
Curr Opin Nephrol Hypertens 2013 May;22(3):266-72. doi: 10.1097/MNH.0b013e3283600f8c. PMID: 23470819Free PMC Article
HIV-associated nephropathy: a brief review.
Lu TC, Ross M
Mt Sinai J Med 2005 May;72(3):193-9. PMID: 15915314

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
IgA nephropathy and kidney transplantation according to the Oxford classification.
Vasconcelos AS, Mazzali M, de Sousa MV
J Bras Nefrol 2023 Jul-Sep;45(3):350-356. doi: 10.1590/2175-8239-JBN-2022-0051en. PMID: 36626310Free PMC Article
Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes.
Haukka J, Sandholm N, Valo E, Forsblom C, Harjutsalo V, Cole JB, McGurnaghan SJ, Colhoun HM, Groop PH; FinnDiane Study Group
Diabetes 2021 Apr;70(4):986-995. Epub 2021 Jan 7 doi: 10.2337/db20-0158. PMID: 33414249Free 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
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

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