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Focal segmental glomerulosclerosis 6(FSGS6)

MedGen UID:
481535
Concept ID:
C3279905
Disease or Syndrome
Synonym: FSGS6
 
Gene (location): MYO1E (15q22.2)
 
Monarch Initiative: MONDO:0013589
OMIM®: 614131

Definition

Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011). 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.
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).
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.
Renal tubular atrophy
MedGen UID:
388054
Concept ID:
C1858395
Finding
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
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.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.

Professional guidelines

PubMed

Wang L, Yu L, Wang Y, Guo Y, Zhai Z, Tang L
Sci Rep 2023 Apr 25;13(1):6740. doi: 10.1038/s41598-023-33678-y. PMID: 37185370Free PMC Article
Ahn W, Bomback AS
Am J Kidney Dis 2020 Jun;75(6):955-964. Epub 2020 Apr 21 doi: 10.1053/j.ajkd.2019.12.019. PMID: 32331832
Kodner C
Am Fam Physician 2016 Mar 15;93(6):479-85. PMID: 26977832

Recent clinical studies

Etiology

Syed YY
Drugs 2023 Apr;83(6):563-568. doi: 10.1007/s40265-023-01864-x. PMID: 37022667Free PMC Article
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
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
Wang H, Cheng X, Tian J, Xiao Y, Tian T, Xu F, Hong X, Zhu MX
Pharmacol Ther 2020 May;209:107497. Epub 2020 Jan 28 doi: 10.1016/j.pharmthera.2020.107497. PMID: 32004513Free 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

Diagnosis

Nasr SH, Kudose S, Javaugue V, Harel S, Said SM, Pascal V, Stokes MB, Vrana JA, Dasari S, Theis JD, Osuchukwu GA, Sathick IJ, Das A, Kashkouli A, Suchin EJ, Liss Y, Suldan Z, Verine J, Arnulf B, Talbot A, Sethi S, Zaidan M, Goujon JM, Valeri AM, Mcphail ED, Sirac C, Leung N, Bridoux F, D'Agati VD
Kidney Int 2023 Mar;103(3):616-626. Epub 2022 Dec 26 doi: 10.1016/j.kint.2022.11.026. PMID: 36581019
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
Ahn W, Bomback AS
Am J Kidney Dis 2020 Jun;75(6):955-964. Epub 2020 Apr 21 doi: 10.1053/j.ajkd.2019.12.019. PMID: 32331832
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

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
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
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
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
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

Prognosis

Ma X, Fang L, Sheng L, Zhou X, Bai S, Zang X, Wang Y, Li M, Lv Z, Zhong Q, Yang X, Wang Y, Hu Y, Yan D, Shi Y, Chen H, Li J, Tao M, Zhuang S, Wang Y, Liu N
Ren Fail 2023 Dec;45(1):2237124. doi: 10.1080/0886022X.2023.2237124. PMID: 37482915Free PMC Article
Kopp JB, Anders HJ, Susztak K, Podestà MA, Remuzzi G, Hildebrandt F, Romagnani P
Nat Rev Dis Primers 2020 Aug 13;6(1):68. doi: 10.1038/s41572-020-0196-7. PMID: 32792490Free PMC Article
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
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

Ma X, Fang L, Sheng L, Zhou X, Bai S, Zang X, Wang Y, Li M, Lv Z, Zhong Q, Yang X, Wang Y, Hu Y, Yan D, Shi Y, Chen H, Li J, Tao M, Zhuang S, Wang Y, Liu N
Ren Fail 2023 Dec;45(1):2237124. doi: 10.1080/0886022X.2023.2237124. PMID: 37482915Free PMC Article
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
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
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
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

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
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
Lau EW, Ma PH, Wu X, Chung VC, Wong SY
Ren Fail 2013 Jul;35(6):914-29. Epub 2013 May 28 doi: 10.3109/0886022X.2013.794687. PMID: 23751146
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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