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Focal segmental glomerulosclerosis 2(FSGS2)

MedGen UID:
349053
•Concept ID:
C1858915
•
Disease or Syndrome
Synonym: FSGS2
 
Gene (location): TRPC6 (11q22.1)
 
Monarch Initiative: MONDO:0011390
OMIM®: 603965

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) (review by Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), 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
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
Chronic kidney disease
MedGen UID:
473458
•Concept ID:
C1561643
•
Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
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
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

Treatment with cyclophosphamide in elderly-onset nephrotic syndrome.
Mak SK, Lo KY, Wong CY, Tong GM, Wong PN, Wong AK
Nephron Clin Pract 2005;101(1):c25-32. Epub 2005 May 9 doi: 10.1159/000085708. PMID: 15886494

Recent clinical studies

Etiology

Potential Urine Proteomic Biomarkers for Focal Segmental Glomerulosclerosis and Minimal Change Disease.
Chebotareva NV, Vinogradov A, Brzhozovskiy AG, Kashirina DN, Indeykina MI, Bugrova AE, Lebedeva M, Moiseev S, Nikolaev EN, Kononikhin AS
Int J Mol Sci 2022 Oct 20;23(20) doi: 10.3390/ijms232012607. PMID: 36293475Free PMC Article
Long-term graft outcomes and patient survival are lower posttransplant in patients with a primary renal diagnosis of glomerulonephritis.
Pruthi R, McClure M, Casula A, Roderick PJ, Fogarty D, Harber M, Ravanan R
Kidney Int 2016 Apr;89(4):918-26. Epub 2016 Jan 21 doi: 10.1016/j.kint.2015.11.022. PMID: 26924061
Histopathological spectrum of childhood idiopathic steroid-resistant nephrotic syndrome in Tunisia.
Gargah T, Labassi A, Goucha-Louzir R, Ben Moussa F, Lakhoua MR
Tunis Med 2011 Mar;89(3):258-61. PMID: 21387228
Improvement and stabilization of chronic kidney disease after gastric bypass.
Alexander JW, Goodman HR, Hawver LR, Cardi MA
Surg Obes Relat Dis 2009 Mar-Apr;5(2):237-41. Epub 2008 Aug 27 doi: 10.1016/j.soard.2008.08.016. PMID: 18996757
Diabetic retinopathy is a poor predictor of type of nephropathy in proteinuric type 2 diabetic patients.
Prakash J, Lodha M, Singh SK, Vohra R, Raja R, Usha
J Assoc Physicians India 2007 Jun;55:412-6. PMID: 17879494

Diagnosis

Glomerulonephritis during Mycobacterium tuberculosis infection: scoping review.
Forster A, Sabur N, Iqbal A, Vaughan S, Thomson B
BMC Nephrol 2024 Aug 31;25(1):285. doi: 10.1186/s12882-024-03716-6. PMID: 39217294Free PMC Article
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.
Zacchia M, Capolongo G, Del Vecchio Blanco F, Secondulfo F, Gupta N, Blasio G, Pollastro RM, Cervesato A, Piluso G, Gigliotti G, Torella A, Nigro V, Perna AF, Capasso G, Trepiccione F
Genes (Basel) 2023 Mar 21;14(3) doi: 10.3390/genes14030764. PMID: 36981034Free PMC Article
Potential Urine Proteomic Biomarkers for Focal Segmental Glomerulosclerosis and Minimal Change Disease.
Chebotareva NV, Vinogradov A, Brzhozovskiy AG, Kashirina DN, Indeykina MI, Bugrova AE, Lebedeva M, Moiseev S, Nikolaev EN, Kononikhin AS
Int J Mol Sci 2022 Oct 20;23(20) doi: 10.3390/ijms232012607. PMID: 36293475Free PMC Article
Long-term graft outcomes and patient survival are lower posttransplant in patients with a primary renal diagnosis of glomerulonephritis.
Pruthi R, McClure M, Casula A, Roderick PJ, Fogarty D, Harber M, Ravanan R
Kidney Int 2016 Apr;89(4):918-26. Epub 2016 Jan 21 doi: 10.1016/j.kint.2015.11.022. PMID: 26924061
Digital subtraction venography in the diagnosis of renal vein thrombosis.
Said R, Hamzeh Y
Am J Nephrol 1991;11(4):305-8. doi: 10.1159/000168327. PMID: 1799189

Therapy

Glomerulonephritis during Mycobacterium tuberculosis infection: scoping review.
Forster A, Sabur N, Iqbal A, Vaughan S, Thomson B
BMC Nephrol 2024 Aug 31;25(1):285. doi: 10.1186/s12882-024-03716-6. PMID: 39217294Free PMC Article
Histopathological spectrum of childhood idiopathic steroid-resistant nephrotic syndrome in Tunisia.
Gargah T, Labassi A, Goucha-Louzir R, Ben Moussa F, Lakhoua MR
Tunis Med 2011 Mar;89(3):258-61. PMID: 21387228

Prognosis

Glomerulonephritis during Mycobacterium tuberculosis infection: scoping review.
Forster A, Sabur N, Iqbal A, Vaughan S, Thomson B
BMC Nephrol 2024 Aug 31;25(1):285. doi: 10.1186/s12882-024-03716-6. PMID: 39217294Free PMC Article
Improvement and stabilization of chronic kidney disease after gastric bypass.
Alexander JW, Goodman HR, Hawver LR, Cardi MA
Surg Obes Relat Dis 2009 Mar-Apr;5(2):237-41. Epub 2008 Aug 27 doi: 10.1016/j.soard.2008.08.016. PMID: 18996757
Diabetic retinopathy is a poor predictor of type of nephropathy in proteinuric type 2 diabetic patients.
Prakash J, Lodha M, Singh SK, Vohra R, Raja R, Usha
J Assoc Physicians India 2007 Jun;55:412-6. PMID: 17879494

Clinical prediction guides

Glomerulonephritis during Mycobacterium tuberculosis infection: scoping review.
Forster A, Sabur N, Iqbal A, Vaughan S, Thomson B
BMC Nephrol 2024 Aug 31;25(1):285. doi: 10.1186/s12882-024-03716-6. PMID: 39217294Free PMC Article
Potential Urine Proteomic Biomarkers for Focal Segmental Glomerulosclerosis and Minimal Change Disease.
Chebotareva NV, Vinogradov A, Brzhozovskiy AG, Kashirina DN, Indeykina MI, Bugrova AE, Lebedeva M, Moiseev S, Nikolaev EN, Kononikhin AS
Int J Mol Sci 2022 Oct 20;23(20) doi: 10.3390/ijms232012607. PMID: 36293475Free PMC Article
Nephrotic syndrome associated with Kimura's disease: a case report and literature review.
Ren S, Li XY, Wang F, Zhang P, Zhang Y, Li GS, Wang L, Zhong X
BMC Nephrol 2018 Nov 8;19(1):316. doi: 10.1186/s12882-018-1123-y. PMID: 30409112Free PMC Article
The significance of caveolae in the glomeruli in glomerular disease.
Moriyama T, Tsuruta Y, Shimizu A, Itabashi M, Takei T, Horita S, Uchida K, Nitta K
J Clin Pathol 2011 Jun;64(6):504-9. Epub 2011 Mar 30 doi: 10.1136/jcp.2010.087023. PMID: 21450752
Diabetic retinopathy is a poor predictor of type of nephropathy in proteinuric type 2 diabetic patients.
Prakash J, Lodha M, Singh SK, Vohra R, Raja R, Usha
J Assoc Physicians India 2007 Jun;55:412-6. PMID: 17879494

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