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Nephrotic syndrome, type 13(NPHS13)

MedGen UID:
900240
•Concept ID:
C4225165
•
Disease or Syndrome
Synonym: NPHS13
 
Gene (location): NUP205 (7q33)
 
Monarch Initiative: MONDO:0014818
OMIM®: 616893

Definition

Nephrotic syndrome type 13 is a steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis (Braun et al., 2016). [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
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
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

Membranous nephropathy: Clearer pathology and mechanisms identify potential strategies for treatment.
Chung EYM, Wang YM, Keung K, Hu M, McCarthy H, Wong G, Kairaitis L, Bose B, Harris DCH, Alexander SI
Front Immunol 2022;13:1036249. Epub 2022 Nov 2 doi: 10.3389/fimmu.2022.1036249. PMID: 36405681Free PMC Article
Treatment and outcome of congenital nephrotic syndrome.
Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, Boyer O
Nephrol Dial Transplant 2019 Mar 1;34(3):458-467. doi: 10.1093/ndt/gfy015. PMID: 29474669
Treatment of membranous nephropathy: time for a paradigm shift.
Ruggenenti P, Fervenza FC, Remuzzi G
Nat Rev Nephrol 2017 Sep;13(9):563-579. Epub 2017 Jul 3 doi: 10.1038/nrneph.2017.92. PMID: 28669992

Recent clinical studies

Etiology

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
Protocadherin 7-Associated Membranous Nephropathy.
Sethi S, Madden B, Debiec H, Morelle J, Charlesworth MC, Gross L, Negron V, Buob D, Chaudhry S, Jadoul M, Fervenza FC, Ronco P
J Am Soc Nephrol 2021 May 3;32(5):1249-1261. Epub 2021 Apr 8 doi: 10.1681/ASN.2020081165. PMID: 33833079Free PMC Article
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article
Kidney disease in Paraguay.
Santa Cruz F, Cabrera W, Barreto S, Mayor MM, Báez D
Kidney Int Suppl 2005 Aug;(97):S120-5. doi: 10.1111/j.1523-1755.2005.09720.x. PMID: 16014089
A podocentric view of nephrology.
Ly J, Alexander M, Quaggin SE
Curr Opin Nephrol Hypertens 2004 May;13(3):299-305. doi: 10.1097/00041552-200405000-00006. PMID: 15073488

Diagnosis

Clinicopathological features and long-term prognosis of glomerular diseases associated with mercury-containing cosmetics.
Zhang L, Du M, Tu Y, Liang D, Wu X, Xie H
J Nephrol 2023 Jun;36(5):1401-1407. Epub 2023 Apr 15 doi: 10.1007/s40620-023-01606-y. PMID: 37060438
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340
Concurrent IgA Nephropathy and Membranous Nephropathy, Is It an Overlap Syndrome?
He JW, Cui DF, Zhou XJ, Chen P, Li Y, Zhang X, Wang YN, Gan T, Liu LJ, Shi SF, Zhu L, Hou P, Lv JC, Zhang H
Front Immunol 2022;13:846323. Epub 2022 Mar 11 doi: 10.3389/fimmu.2022.846323. PMID: 35359934Free PMC Article
The characteristics of patients with kidney light chain deposition disease concurrent with light chain amyloidosis.
Said SM, Best Rocha A, Valeri AM, Paueksakon P, Dasari S, Theis JD, Vrana JA, Obadina MO, Saghafi D, Alexander MP, Sethi S, Larsen CP, Joly F, Dispenzieri A, Bridoux F, Sirac C, Leung N, Fogo AB, McPhail ED, Nasr SH
Kidney Int 2022 Jan;101(1):152-163. Epub 2021 Nov 9 doi: 10.1016/j.kint.2021.10.019. PMID: 34767832
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article

Therapy

Membranous nephropathy: Clearer pathology and mechanisms identify potential strategies for treatment.
Chung EYM, Wang YM, Keung K, Hu M, McCarthy H, Wong G, Kairaitis L, Bose B, Harris DCH, Alexander SI
Front Immunol 2022;13:1036249. Epub 2022 Nov 2 doi: 10.3389/fimmu.2022.1036249. PMID: 36405681Free PMC Article
Concurrent IgA Nephropathy and Membranous Nephropathy, Is It an Overlap Syndrome?
He JW, Cui DF, Zhou XJ, Chen P, Li Y, Zhang X, Wang YN, Gan T, Liu LJ, Shi SF, Zhu L, Hou P, Lv JC, Zhang H
Front Immunol 2022;13:846323. Epub 2022 Mar 11 doi: 10.3389/fimmu.2022.846323. PMID: 35359934Free 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
New and Old Anti-CD20 Monoclonal Antibodies for Nephrotic Syndrome. Where We Are?
Basu B, Angeletti A, Islam B, Ghiggeri GM
Front Immunol 2022;13:805697. Epub 2022 Feb 11 doi: 10.3389/fimmu.2022.805697. PMID: 35222385Free PMC Article
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article

Prognosis

Identification and validation of biomarkers in membranous nephropathy and pan-cancer analysis.
Yang Y, Zou GM, Wei XS, Zhang Z, Zhuo L, Xu QQ, Li WG
Front Immunol 2024;15:1302909. Epub 2024 May 23 doi: 10.3389/fimmu.2024.1302909. PMID: 38846934Free PMC Article
Clinicopathological and prognostic characteristics of idiopathic membranous nephropathy with dual antigen positivity.
Yang L, Wang G, Ye N, Xu X, Cheng W, Sun L, Dong H, Kong L, Zhao X, Geng Y, Cheng H
Front Immunol 2023;14:1297107. Epub 2024 Jan 5 doi: 10.3389/fimmu.2023.1297107. PMID: 38250076Free PMC Article
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article
Lipid-Lowering Therapy in CKD: Should We Use It and in Which Patients.
Kaysen GA
Blood Purif 2017;43(1-3):196-199. Epub 2017 Jan 24 doi: 10.1159/000452727. PMID: 28114129
Kidney disease in Paraguay.
Santa Cruz F, Cabrera W, Barreto S, Mayor MM, Báez D
Kidney Int Suppl 2005 Aug;(97):S120-5. doi: 10.1111/j.1523-1755.2005.09720.x. PMID: 16014089

Clinical prediction guides

Safety and Efficacy of Sacubitril/Valsartan in Patients With a Failing Systemic Right Ventricle: A Prospective Single-Center Study.
Fusco F, Scognamiglio G, Merola A, Iannuzzi A, Palma M, Grimaldi N, Sarubbi B
Circ Heart Fail 2023 Feb;16(2):e009848. Epub 2022 Dec 2 doi: 10.1161/CIRCHEARTFAILURE.122.009848. PMID: 36458541
Lipid-Lowering Therapy in CKD: Should We Use It and in Which Patients.
Kaysen GA
Blood Purif 2017;43(1-3):196-199. Epub 2017 Jan 24 doi: 10.1159/000452727. PMID: 28114129
Primary membranous nephropathy in adolescence: A prospective study.
Kumar V, Varma AK, Nada R, Ghosh R, Suri D, Gupta A, Kumar V, Rathi M, Kohli H, Jha V, Gupta K, Ramachandran R
Nephrology (Carlton) 2017 Sep;22(9):678-683. doi: 10.1111/nep.12835. PMID: 27334445
Proliferative glomerulonephritis with monoclonal IgG deposits: a distinct entity mimicking immune-complex glomerulonephritis.
Nasr SH, Markowitz GS, Stokes MB, Seshan SV, Valderrama E, Appel GB, Aucouturier P, D'Agati VD
Kidney Int 2004 Jan;65(1):85-96. doi: 10.1111/j.1523-1755.2004.00365.x. PMID: 14675039
Is there any tubular secretion of protein?
Bohle A, Oliveira de Cavalcanti V, Laberke HG
Clin Nephrol 1988 Jan;29(1):28-34. PMID: 3289805

Recent systematic reviews

A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340
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
Efficacy and cost of different treatment in patients with idiopathic membranous nephropathy: A network meta-analysis and cost-effectiveness analysis.
Dai P, Xie W, Yu X, Sun J, Wang S, Kawuki J
Int Immunopharmacol 2021 May;94:107376. Epub 2021 Feb 11 doi: 10.1016/j.intimp.2021.107376. PMID: 33582591
Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567
Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.
Yuan W, Wang J, Wu T
Cochrane Database Syst Rev 2008 Apr 16;(2):CD006335. doi: 10.1002/14651858.CD006335.pub2. PMID: 18425948

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