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Focal segmental glomerulosclerosis 8(FSGS8)

MedGen UID:
863430
•Concept ID:
C4014993
•
Disease or Syndrome
Synonym: FSGS8
 
Gene (location): ANLN (7p14.2)
 
Monarch Initiative: MONDO:0014462
OMIM®: 616032

Definition

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN 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
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.
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
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

High risk APOL1 genotypes and kidney disease among treatment naïve HIV patients at Kano, Nigeria.
Abdu A, Duarte R, Dickens C, Dix-Peek T, Bala SM, Ademola B, Naicker S
PLoS One 2022;17(10):e0275949. Epub 2022 Oct 13 doi: 10.1371/journal.pone.0275949. PMID: 36227935Free PMC Article
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS
Eur J Hum Genet 2021 Aug;29(8):1186-1197. Epub 2021 Apr 15 doi: 10.1038/s41431-021-00858-1. PMID: 33854215Free PMC Article
COQ8B nephropathy: Early detection and optimal treatment.
Song X, Fang X, Tang X, Cao Q, Zhai Y, Chen J, Liu J, Zhang Z, Xiang T, Qian Y, Wu B, Wang H, Zhou W, Liu C, Shen Q, Xu H, Rao J
Mol Genet Genomic Med 2020 Aug;8(8):e1360. Epub 2020 Jun 16 doi: 10.1002/mgg3.1360. PMID: 32543055Free PMC Article

Recent clinical studies

Etiology

Sparsentan versus Irbesartan in Focal Segmental Glomerulosclerosis.
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
Nephrotic syndrome: pathophysiology and consequences.
Claudio P, Gabriella M
J Nephrol 2023 Nov;36(8):2179-2190. Epub 2023 Jul 19 doi: 10.1007/s40620-023-01697-7. PMID: 37466816
Interventions for focal segmental glomerulosclerosis in adults.
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
Recurrence of FSGS after Kidney Transplantation in Adults.
Uffing A, Pérez-Sáez MJ, Mazzali M, Manfro RC, Bauer AC, de Sottomaior Drumond F, O'Shaughnessy MM, Cheng XS, Chin KK, Ventura CG, Agena F, David-Neto E, Mansur JB, Kirsztajn GM, Tedesco-Silva H Jr, Neto GMV, Arias-Cabrales C, Buxeda A, Bugnazet M, Jouve T, Malvezzi P, Akalin E, Alani O, Agrawal N, La Manna G, Comai G, Bini C, Muhsin SA, Riella MC, Hokazono SR, Farouk SS, Haverly M, Mothi SS, Berger SP, Cravedi P, Riella LV
Clin J Am Soc Nephrol 2020 Feb 7;15(2):247-256. Epub 2020 Jan 23 doi: 10.2215/CJN.08970719. PMID: 31974287Free PMC Article
Oxford Classification of IgA nephropathy 2016: an update from the IgA Nephropathy Classification Working Group.
Trimarchi H, Barratt J, Cattran DC, Cook HT, Coppo R, Haas M, Liu ZH, Roberts IS, Yuzawa Y, Zhang H, Feehally J; IgAN Classification Working Group of the International IgA Nephropathy Network and the Renal Pathology Society; Conference Participants
Kidney Int 2017 May;91(5):1014-1021. Epub 2017 Mar 22 doi: 10.1016/j.kint.2017.02.003. PMID: 28341274

Diagnosis

Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis.
Mariani LH, Eddy S, AlAkwaa FM, McCown PJ, Harder JL, Nair V, Eichinger F, Martini S, Ademola AD, Boima V, Reich HN, El Saghir J, Godfrey B, Ju W, Tanner EC, Vega-Warner V, Wys NL, Adler SG, Appel GB, Athavale A, Atkinson MA, Bagnasco SM, Barisoni L, Brown E, Cattran DC, Coppock GM, Dell KM, Derebail VK, Fervenza FC, Fornoni A, Gadegbeku CA, Gibson KL, Greenbaum LA, Hingorani SR, Hladunewich MA, Hodgin JB, Hogan MC, Holzman LB, Jefferson JA, Kaskel FJ, Kopp JB, Lafayette RA, Lemley KV, Lieske JC, Lin JJ, Menon R, Meyers KE, Nachman PH, Nast CC, O'Shaughnessy MM, Otto EA, Reidy KJ, Sambandam KK, Sedor JR, Sethna CB, Singer P, Srivastava T, Tran CL, Tuttle KR, Vento SM, Wang CS, Ojo AO, Adu D, Gipson DS, Trachtman H, Kretzler M
Kidney Int 2023 Mar;103(3):565-579. Epub 2022 Nov 25 doi: 10.1016/j.kint.2022.10.023. PMID: 36442540Free PMC Article
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
Recurrence of FSGS after Kidney Transplantation in Adults.
Uffing A, Pérez-Sáez MJ, Mazzali M, Manfro RC, Bauer AC, de Sottomaior Drumond F, O'Shaughnessy MM, Cheng XS, Chin KK, Ventura CG, Agena F, David-Neto E, Mansur JB, Kirsztajn GM, Tedesco-Silva H Jr, Neto GMV, Arias-Cabrales C, Buxeda A, Bugnazet M, Jouve T, Malvezzi P, Akalin E, Alani O, Agrawal N, La Manna G, Comai G, Bini C, Muhsin SA, Riella MC, Hokazono SR, Farouk SS, Haverly M, Mothi SS, Berger SP, Cravedi P, Riella LV
Clin J Am Soc Nephrol 2020 Feb 7;15(2):247-256. Epub 2020 Jan 23 doi: 10.2215/CJN.08970719. PMID: 31974287Free PMC Article
Obesity-related glomerulopathy: clinical and pathologic characteristics and pathogenesis.
D'Agati VD, Chagnac A, de Vries AP, Levi M, Porrini E, Herman-Edelstein M, Praga M
Nat Rev Nephrol 2016 Aug;12(8):453-71. Epub 2016 Jun 6 doi: 10.1038/nrneph.2016.75. PMID: 27263398
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

Sparsentan versus Irbesartan in Focal Segmental Glomerulosclerosis.
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
Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis.
Mariani LH, Eddy S, AlAkwaa FM, McCown PJ, Harder JL, Nair V, Eichinger F, Martini S, Ademola AD, Boima V, Reich HN, El Saghir J, Godfrey B, Ju W, Tanner EC, Vega-Warner V, Wys NL, Adler SG, Appel GB, Athavale A, Atkinson MA, Bagnasco SM, Barisoni L, Brown E, Cattran DC, Coppock GM, Dell KM, Derebail VK, Fervenza FC, Fornoni A, Gadegbeku CA, Gibson KL, Greenbaum LA, Hingorani SR, Hladunewich MA, Hodgin JB, Hogan MC, Holzman LB, Jefferson JA, Kaskel FJ, Kopp JB, Lafayette RA, Lemley KV, Lieske JC, Lin JJ, Menon R, Meyers KE, Nachman PH, Nast CC, O'Shaughnessy MM, Otto EA, Reidy KJ, Sambandam KK, Sedor JR, Sethna CB, Singer P, Srivastava T, Tran CL, Tuttle KR, Vento SM, Wang CS, Ojo AO, Adu D, Gipson DS, Trachtman H, Kretzler M
Kidney Int 2023 Mar;103(3):565-579. Epub 2022 Nov 25 doi: 10.1016/j.kint.2022.10.023. PMID: 36442540Free PMC Article
Interventions for focal segmental glomerulosclerosis in adults.
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
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
Oxford Classification of IgA nephropathy 2016: an update from the IgA Nephropathy Classification Working Group.
Trimarchi H, Barratt J, Cattran DC, Cook HT, Coppo R, Haas M, Liu ZH, Roberts IS, Yuzawa Y, Zhang H, Feehally J; IgAN Classification Working Group of the International IgA Nephropathy Network and the Renal Pathology Society; Conference Participants
Kidney Int 2017 May;91(5):1014-1021. Epub 2017 Mar 22 doi: 10.1016/j.kint.2017.02.003. PMID: 28341274

Prognosis

Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis.
Mariani LH, Eddy S, AlAkwaa FM, McCown PJ, Harder JL, Nair V, Eichinger F, Martini S, Ademola AD, Boima V, Reich HN, El Saghir J, Godfrey B, Ju W, Tanner EC, Vega-Warner V, Wys NL, Adler SG, Appel GB, Athavale A, Atkinson MA, Bagnasco SM, Barisoni L, Brown E, Cattran DC, Coppock GM, Dell KM, Derebail VK, Fervenza FC, Fornoni A, Gadegbeku CA, Gibson KL, Greenbaum LA, Hingorani SR, Hladunewich MA, Hodgin JB, Hogan MC, Holzman LB, Jefferson JA, Kaskel FJ, Kopp JB, Lafayette RA, Lemley KV, Lieske JC, Lin JJ, Menon R, Meyers KE, Nachman PH, Nast CC, O'Shaughnessy MM, Otto EA, Reidy KJ, Sambandam KK, Sedor JR, Sethna CB, Singer P, Srivastava T, Tran CL, Tuttle KR, Vento SM, Wang CS, Ojo AO, Adu D, Gipson DS, Trachtman H, Kretzler M
Kidney Int 2023 Mar;103(3):565-579. Epub 2022 Nov 25 doi: 10.1016/j.kint.2022.10.023. PMID: 36442540Free PMC Article
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
Recurrence of FSGS after Kidney Transplantation in Adults.
Uffing A, Pérez-Sáez MJ, Mazzali M, Manfro RC, Bauer AC, de Sottomaior Drumond F, O'Shaughnessy MM, Cheng XS, Chin KK, Ventura CG, Agena F, David-Neto E, Mansur JB, Kirsztajn GM, Tedesco-Silva H Jr, Neto GMV, Arias-Cabrales C, Buxeda A, Bugnazet M, Jouve T, Malvezzi P, Akalin E, Alani O, Agrawal N, La Manna G, Comai G, Bini C, Muhsin SA, Riella MC, Hokazono SR, Farouk SS, Haverly M, Mothi SS, Berger SP, Cravedi P, Riella LV
Clin J Am Soc Nephrol 2020 Feb 7;15(2):247-256. Epub 2020 Jan 23 doi: 10.2215/CJN.08970719. PMID: 31974287Free PMC Article
Oxford Classification of IgA nephropathy 2016: an update from the IgA Nephropathy Classification Working Group.
Trimarchi H, Barratt J, Cattran DC, Cook HT, Coppo R, Haas M, Liu ZH, Roberts IS, Yuzawa Y, Zhang H, Feehally J; IgAN Classification Working Group of the International IgA Nephropathy Network and the Renal Pathology Society; Conference Participants
Kidney Int 2017 May;91(5):1014-1021. Epub 2017 Mar 22 doi: 10.1016/j.kint.2017.02.003. PMID: 28341274
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

Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis.
Mariani LH, Eddy S, AlAkwaa FM, McCown PJ, Harder JL, Nair V, Eichinger F, Martini S, Ademola AD, Boima V, Reich HN, El Saghir J, Godfrey B, Ju W, Tanner EC, Vega-Warner V, Wys NL, Adler SG, Appel GB, Athavale A, Atkinson MA, Bagnasco SM, Barisoni L, Brown E, Cattran DC, Coppock GM, Dell KM, Derebail VK, Fervenza FC, Fornoni A, Gadegbeku CA, Gibson KL, Greenbaum LA, Hingorani SR, Hladunewich MA, Hodgin JB, Hogan MC, Holzman LB, Jefferson JA, Kaskel FJ, Kopp JB, Lafayette RA, Lemley KV, Lieske JC, Lin JJ, Menon R, Meyers KE, Nachman PH, Nast CC, O'Shaughnessy MM, Otto EA, Reidy KJ, Sambandam KK, Sedor JR, Sethna CB, Singer P, Srivastava T, Tran CL, Tuttle KR, Vento SM, Wang CS, Ojo AO, Adu D, Gipson DS, Trachtman H, Kretzler M
Kidney Int 2023 Mar;103(3):565-579. Epub 2022 Nov 25 doi: 10.1016/j.kint.2022.10.023. PMID: 36442540Free PMC Article
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
Recurrence of FSGS after Kidney Transplantation in Adults.
Uffing A, Pérez-Sáez MJ, Mazzali M, Manfro RC, Bauer AC, de Sottomaior Drumond F, O'Shaughnessy MM, Cheng XS, Chin KK, Ventura CG, Agena F, David-Neto E, Mansur JB, Kirsztajn GM, Tedesco-Silva H Jr, Neto GMV, Arias-Cabrales C, Buxeda A, Bugnazet M, Jouve T, Malvezzi P, Akalin E, Alani O, Agrawal N, La Manna G, Comai G, Bini C, Muhsin SA, Riella MC, Hokazono SR, Farouk SS, Haverly M, Mothi SS, Berger SP, Cravedi P, Riella LV
Clin J Am Soc Nephrol 2020 Feb 7;15(2):247-256. Epub 2020 Jan 23 doi: 10.2215/CJN.08970719. PMID: 31974287Free PMC Article
Oxford Classification of IgA nephropathy 2016: an update from the IgA Nephropathy Classification Working Group.
Trimarchi H, Barratt J, Cattran DC, Cook HT, Coppo R, Haas M, Liu ZH, Roberts IS, Yuzawa Y, Zhang H, Feehally J; IgAN Classification Working Group of the International IgA Nephropathy Network and the Renal Pathology Society; Conference Participants
Kidney Int 2017 May;91(5):1014-1021. Epub 2017 Mar 22 doi: 10.1016/j.kint.2017.02.003. PMID: 28341274

Recent systematic reviews

Prevalence and distribution of primary glomerular diseases in Africa: a systematic review and meta-analysis of observational studies.
Ekrikpo UE, Obiagwu PN, Udo AI, Chukwuonye II, Noubiap JJ, Okpechi-Samuel US, Udoudo UN, Tannor EK, Ngoka SC, Mbah IO, Bello AK, Okpechi IG
Pan Afr Med J 2023;45:153. Epub 2023 Aug 9 doi: 10.11604/pamj.2023.45.153.40741. PMID: 37869232Free PMC Article
Interventions for focal segmental glomerulosclerosis in adults.
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
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
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
Immunosuppressive treatment for focal segmental glomerulosclerosis in adults.
Braun N, Schmutzler F, Lange C, Perna A, Remuzzi G, Risler T, Willis NS
Cochrane Database Syst Rev 2008 Jul 16;2008(3):CD003233. doi: 10.1002/14651858.CD003233.pub2. PMID: 18646090Free PMC Article

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