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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.
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.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
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.

Professional guidelines

PubMed

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
Radhakrishnan J, Cattran DC
Kidney Int 2012 Oct;82(8):840-56. Epub 2012 Aug 15 doi: 10.1038/ki.2012.280. PMID: 22895519
Deegens JK, Wetzels JF
Kidney Int 2011 Oct;80(8):798-801. doi: 10.1038/ki.2011.191. PMID: 21960168

Recent clinical studies

Etiology

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
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
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
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
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

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
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
Wang M, Chun J, Genovese G, Knob AU, Benjamin A, Wilkins MS, Friedman DJ, Appel GB, Lifton RP, Mane S, Pollak MR
J Am Soc Nephrol 2019 Sep;30(9):1625-1640. Epub 2019 Jul 15 doi: 10.1681/ASN.2019020152. PMID: 31308072Free PMC Article
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
Roberts IS
Nat Rev Nephrol 2014 Aug;10(8):445-54. Epub 2014 May 27 doi: 10.1038/nrneph.2014.92. PMID: 24861083

Therapy

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
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
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
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
Roberts IS
Nat Rev Nephrol 2014 Aug;10(8):445-54. Epub 2014 May 27 doi: 10.1038/nrneph.2014.92. PMID: 24861083

Prognosis

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
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
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
Roberts IS
Nat Rev Nephrol 2014 Aug;10(8):445-54. Epub 2014 May 27 doi: 10.1038/nrneph.2014.92. PMID: 24861083
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

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
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
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
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
Roberts IS
Nat Rev Nephrol 2014 Aug;10(8):445-54. Epub 2014 May 27 doi: 10.1038/nrneph.2014.92. PMID: 24861083

Recent systematic reviews

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
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
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
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
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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