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 (NPHS13) 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
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

Diagnosis

Exploring the significance of interleukin-33/ST2 axis in minimal change disease.
Kanazawa N, Iyoda M, Suzuki T, Tachibana S, Nagashima R, Honda H
Sci Rep 2023 Oct 31;13(1):18776. doi: 10.1038/s41598-023-45678-z. PMID: 37907612Free 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
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
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

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
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

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
Primary thymic mucosa-associated lymphoid tissue lymphoma complicated with renal amyloidosis: A first case report.
Chen Q, Du Y, Prince S, Zhang P, Li G, Wang L, Wang W
Medicine (Baltimore) 2020 Mar;99(13):e19462. doi: 10.1097/MD.0000000000019462. PMID: 32221068Free 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
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

Exploring the significance of interleukin-33/ST2 axis in minimal change disease.
Kanazawa N, Iyoda M, Suzuki T, Tachibana S, Nagashima R, Honda H
Sci Rep 2023 Oct 31;13(1):18776. doi: 10.1038/s41598-023-45678-z. PMID: 37907612Free 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;2013(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567Free PMC Article
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...