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Focal segmental glomerulosclerosis 9(FSGS9)

MedGen UID:
863992
•Concept ID:
C4015555
•
Disease or Syndrome
Synonym: FSGS9
 
Gene (location): CRB2 (9q33.3)
 
Monarch Initiative: MONDO:0014539
OMIM®: 616220

Definition

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. [from MONDO]

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
Steroid-resistant nephrotic syndrome
MedGen UID:
588369
•Concept ID:
C0403397
•
Disease or Syndrome
A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.
See: Feature record | Search on this feature

Professional guidelines

PubMed

APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis.
Zee J, McNulty MT, Hodgin JB, Zhdanova O, Hingorani S, Jefferson JA, Gibson KL, Trachtman H, Fornoni A, Dell KM, Reich HN, Bagnasco S, Greenbaum LA, Lafayette RA, Gipson DS, Brown E, Kretzler M, Appel G, Sambandam KK, Tuttle KR, Chen D, Atkinson MA, Hogan MC, Kaskel FJ, Meyers KE, O'Toole J, Srivastava T, Sethna CB, Hladunewich MA, Lin JJ, Nast CC, Derebail VK, Patel J, Vento S, Holzman LB, Athavale AM, Adler SG, Lemley KV, Lieske JC, Hogan JJ, Gadegbeku CA, Fervenza FC, Wang CS, Matar RB, Singer P, Kopp JB, Barisoni L, Sampson MG
Pediatr Nephrol 2021 Sep;36(9):2747-2757. Epub 2021 Mar 1 doi: 10.1007/s00467-021-04990-4. PMID: 33646395Free PMC Article
Rituximab treatment for relapsing minimal change disease and focal segmental glomerulosclerosis: a systematic review.
Kronbichler A, Kerschbaum J, Fernandez-Fresnedo G, Hoxha E, Kurschat CE, Busch M, Bruchfeld A, Mayer G, Rudnicki M
Am J Nephrol 2014;39(4):322-30. Epub 2014 Apr 15 doi: 10.1159/000360908. PMID: 24751753
Treatment of focal segmental glomerulosclerosis.
Meyrier A
Expert Opin Pharmacother 2005 Aug;6(9):1539-49. doi: 10.1517/14656566.6.9.1539. PMID: 16086641

Recent clinical studies

Etiology

Safety and efficacy of dapagliflozin in patients with focal segmental glomerulosclerosis: a prespecified analysis of the dapagliflozin and prevention of adverse outcomes in chronic kidney disease (DAPA-CKD) trial.
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
Focal Segmental Glomerulosclerosis: State-of-the-Art and Clinical Perspective.
Shabaka A, Tato Ribera A, Fernández-Juárez G
Nephron 2020;144(9):413-427. Epub 2020 Jul 28 doi: 10.1159/000508099. PMID: 32721952
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
DUET: A Phase 2 Study Evaluating the Efficacy and Safety of Sparsentan in Patients with FSGS.
Trachtman H, Nelson P, Adler S, Campbell KN, Chaudhuri A, Derebail VK, Gambaro G, Gesualdo L, Gipson DS, Hogan J, Lieberman K, Marder B, Meyers KE, Mustafa E, Radhakrishnan J, Srivastava T, Stepanians M, Tesar V, Zhdanova O, Komers R; DUET Study Group
J Am Soc Nephrol 2018 Nov;29(11):2745-2754. doi: 10.1681/ASN.2018010091. PMID: 30361325Free 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

Therapeutic trials in adult FSGS: lessons learned and the road forward.
De Vriese AS, Wetzels JF, Glassock RJ, Sethi S, Fervenza FC
Nat Rev Nephrol 2021 Sep;17(9):619-630. Epub 2021 May 20 doi: 10.1038/s41581-021-00427-1. PMID: 34017116Free PMC Article
Focal Segmental Glomerulosclerosis: State-of-the-Art and Clinical Perspective.
Shabaka A, Tato Ribera A, Fernández-Juárez G
Nephron 2020;144(9):413-427. Epub 2020 Jul 28 doi: 10.1159/000508099. PMID: 32721952
Glomerulonephritis Histopathological Pattern Change.
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
Glomerular diseases: FSGS.
Bose B, Cattran D; Toronto Glomerulonephritis Registry
Clin J Am Soc Nephrol 2014 Mar;9(3):626-32. Epub 2013 Aug 29 doi: 10.2215/CJN.05810513. PMID: 23990165Free PMC Article
The incidence of primary glomerulonephritis worldwide: a systematic review of the literature.
McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142

Therapy

Safety and efficacy of dapagliflozin in patients with focal segmental glomerulosclerosis: a prespecified analysis of the dapagliflozin and prevention of adverse outcomes in chronic kidney disease (DAPA-CKD) trial.
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
Focal Segmental Glomerulosclerosis: State-of-the-Art and Clinical Perspective.
Shabaka A, Tato Ribera A, Fernández-Juárez G
Nephron 2020;144(9):413-427. Epub 2020 Jul 28 doi: 10.1159/000508099. PMID: 32721952
Rituximab therapy for focal segmental glomerulosclerosis and minimal change disease in adults: a systematic review and meta-analysis.
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
DUET: A Phase 2 Study Evaluating the Efficacy and Safety of Sparsentan in Patients with FSGS.
Trachtman H, Nelson P, Adler S, Campbell KN, Chaudhuri A, Derebail VK, Gambaro G, Gesualdo L, Gipson DS, Hogan J, Lieberman K, Marder B, Meyers KE, Mustafa E, Radhakrishnan J, Srivastava T, Stepanians M, Tesar V, Zhdanova O, Komers R; DUET Study Group
J Am Soc Nephrol 2018 Nov;29(11):2745-2754. doi: 10.1681/ASN.2018010091. PMID: 30361325Free PMC Article
Glomerular diseases: FSGS.
Bose B, Cattran D; Toronto Glomerulonephritis Registry
Clin J Am Soc Nephrol 2014 Mar;9(3):626-32. Epub 2013 Aug 29 doi: 10.2215/CJN.05810513. PMID: 23990165Free PMC Article

Prognosis

Focal Segmental Glomerulosclerosis: State-of-the-Art and Clinical Perspective.
Shabaka A, Tato Ribera A, Fernández-Juárez G
Nephron 2020;144(9):413-427. Epub 2020 Jul 28 doi: 10.1159/000508099. PMID: 32721952
Glomerulonephritis Histopathological Pattern Change.
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
Glomerular diseases: FSGS.
Bose B, Cattran D; Toronto Glomerulonephritis Registry
Clin J Am Soc Nephrol 2014 Mar;9(3):626-32. Epub 2013 Aug 29 doi: 10.2215/CJN.05810513. PMID: 23990165Free PMC Article
The incidence of primary glomerulonephritis worldwide: a systematic review of the literature.
McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142

Clinical prediction guides

Kidney Biopsy Features Most Predictive of Clinical Outcomes in the Spectrum of Minimal Change Disease and Focal Segmental Glomerulosclerosis.
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
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Glomerulonephritis Histopathological Pattern Change.
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
Rituximab therapy for focal segmental glomerulosclerosis and minimal change disease in adults: a systematic review and meta-analysis.
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
Glomerular diseases: FSGS.
Bose B, Cattran D; Toronto Glomerulonephritis Registry
Clin J Am Soc Nephrol 2014 Mar;9(3):626-32. Epub 2013 Aug 29 doi: 10.2215/CJN.05810513. PMID: 23990165Free PMC Article

Recent systematic reviews

Rituximab therapy for focal segmental glomerulosclerosis and minimal change disease in adults: a systematic review and meta-analysis.
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
Serum soluble urokinase type plasminogen activated receptor and focal segmental glomerulosclerosis: a systematic review and meta-analysis.
Shuai T, Pei Jing Y, Huang Q, Xiong H, Liu J, Zhu L, Yang K, Jian L
BMJ Open 2019 Oct 7;9(10):e031812. doi: 10.1136/bmjopen-2019-031812. PMID: 31594897Free PMC Article
The role of plasma exchange in treating post-transplant focal segmental glomerulosclerosis: A systematic review and meta-analysis of 77 case-reports and case-series.
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
Rituximab treatment for relapsing minimal change disease and focal segmental glomerulosclerosis: a systematic review.
Kronbichler A, Kerschbaum J, Fernandez-Fresnedo G, Hoxha E, Kurschat CE, Busch M, Bruchfeld A, Mayer G, Rudnicki M
Am J Nephrol 2014;39(4):322-30. Epub 2014 Apr 15 doi: 10.1159/000360908. PMID: 24751753
The incidence of primary glomerulonephritis worldwide: a systematic review of the literature.
McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142

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