U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Clinical Analysis of Primary Nephrotic Syndrome Complicated by Plastic Bronchitis in Children.
Jia SL, Ni FF, Ma YJ, Wu YH, Ma WK, Gao XJ
Klin Padiatr 2021 Mar;233(2):63-68. Epub 2021 Mar 8 doi: 10.1055/a-1288-3670. PMID: 33684950
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

Recent clinical studies

Etiology

Nephrotic syndrome in the elderly: epidemiological aspects, clinical data, and renal biopsy findings.
Soares LR, Pantoja Junior JMS, Jorge LB, Yu L, Cavalcante LB, Malheiros DMAC, Woronik V, Dias CB
Braz J Med Biol Res 2022;55:e11861. Epub 2022 Feb 28 doi: 10.1590/1414-431X2022e11861. PMID: 35239780Free 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
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
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
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

Diagnosis

Nephrotic syndrome in the elderly: epidemiological aspects, clinical data, and renal biopsy findings.
Soares LR, Pantoja Junior JMS, Jorge LB, Yu L, Cavalcante LB, Malheiros DMAC, Woronik V, Dias CB
Braz J Med Biol Res 2022;55:e11861. Epub 2022 Feb 28 doi: 10.1590/1414-431X2022e11861. PMID: 35239780Free 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
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
The glomerular permeability factors in idiopathic nephrotic syndrome.
Davin JC
Pediatr Nephrol 2016 Feb;31(2):207-15. Epub 2015 Apr 30 doi: 10.1007/s00467-015-3082-x. PMID: 25925039Free PMC Article
Gonadal tumor in Frasier syndrome: a review and classification.
Ezaki J, Hashimoto K, Asano T, Kanda S, Akioka Y, Hattori M, Yamamoto T, Shibata N
Cancer Prev Res (Phila) 2015 Apr;8(4):271-6. Epub 2015 Jan 26 doi: 10.1158/1940-6207.CAPR-14-0415. PMID: 25623218

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
Nephrotic syndrome in the elderly: epidemiological aspects, clinical data, and renal biopsy findings.
Soares LR, Pantoja Junior JMS, Jorge LB, Yu L, Cavalcante LB, Malheiros DMAC, Woronik V, Dias CB
Braz J Med Biol Res 2022;55:e11861. Epub 2022 Feb 28 doi: 10.1590/1414-431X2022e11861. PMID: 35239780Free 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
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

Prognosis

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
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
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
Gonadal tumor in Frasier syndrome: a review and classification.
Ezaki J, Hashimoto K, Asano T, Kanda S, Akioka Y, Hattori M, Yamamoto T, Shibata N
Cancer Prev Res (Phila) 2015 Apr;8(4):271-6. Epub 2015 Jan 26 doi: 10.1158/1940-6207.CAPR-14-0415. PMID: 25623218

Clinical prediction guides

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
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
A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness.
Han SS, Xu YQ, Lu Y, Gu XC, Wang Y
Medicine (Baltimore) 2017 Jun;96(24):e7191. doi: 10.1097/MD.0000000000007191. PMID: 28614261Free PMC Article
Podocyte proteins in congenital and minimal change nephrotic syndrome.
Suvanto M, Jahnukainen T, Kestilä M, Jalanko H
Clin Exp Nephrol 2015 Jun;19(3):481-8. Epub 2014 Aug 14 doi: 10.1007/s10157-014-1020-z. PMID: 25117488
Idiopathic nephrotic syndrome and atopy: is there a common link?
Abdel-Hafez M, Shimada M, Lee PY, Johnson RJ, Garin EH
Am J Kidney Dis 2009 Nov;54(5):945-53. Epub 2009 Jun 25 doi: 10.1053/j.ajkd.2009.03.019. PMID: 19556042Free PMC Article

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
Interventions for idiopathic steroid-resistant nephrotic syndrome in children.
Liu ID, Willis NS, Craig JC, Hodson EM
Cochrane Database Syst Rev 2019 Nov 21;2019(11) doi: 10.1002/14651858.CD003594.pub6. PMID: 31749142Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...