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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 (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

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
The incidence of biopsy-proven primary glomerulonephritis in the Republic of Macedonia-long-term follow-up.
Polenakovic MH, Grcevska L, Dzikova S
Nephrol Dial Transplant 2003 Jul;18 Suppl 5:v26-7. doi: 10.1093/ndt/gfg1039. PMID: 12817063
Systemic hypertension in patients with glomerulonephritis.
Corpa MV, Soares V
Ren Fail 2002 May;24(3):347-52. doi: 10.1081/jdi-120005368. PMID: 12166701
Angiotensin II antagonism improves the lipoprotein profile in patients with nephrotic syndrome.
de Zeeuw D, Gansevoort RT, Dullaart RP, de Jong PE
J Hypertens Suppl 1995 Jul;13(1):S53-8. doi: 10.1097/00004872-199507001-00008. PMID: 18800457
The natural history of focal segmental glomerulosclerosis with and without mesangial hypercellularity in children.
Schoeneman MJ, Bennett B, Greifer I
Clin Nephrol 1978 Feb;9(2):45-54. PMID: 639366

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
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
Systemic hypertension in patients with glomerulonephritis.
Corpa MV, Soares V
Ren Fail 2002 May;24(3):347-52. doi: 10.1081/jdi-120005368. PMID: 12166701
Nephrin mRNA regulation by protein kinase C.
Wang SX, Menè P, Holthöfer H
J Nephrol 2001 Mar-Apr;14(2):98-103. PMID: 11411021
The natural history of focal segmental glomerulosclerosis with and without mesangial hypercellularity in children.
Schoeneman MJ, Bennett B, Greifer I
Clin Nephrol 1978 Feb;9(2):45-54. PMID: 639366

Therapy

Lipoprotein glomerulopathy: a rare cause of steroid-resistant nephrotic syndrome in a child.
Vala K, Shah K, Kapadia S, Khandelwal M, Jojera A, Soni S, Prajapati A, Saha A
CEN Case Rep 2024 Oct;13(5):403-407. Epub 2024 Mar 4 doi: 10.1007/s13730-024-00861-7. PMID: 38438730Free PMC Article
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
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 young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy.
Lui DTW, Lee ACH, Yap DYH, Chan GSW, Tan KCB
J Clin Lipidol 2019 Mar-Apr;13(2):251-253. Epub 2018 Dec 19 doi: 10.1016/j.jacl.2018.12.004. PMID: 30685233

Prognosis

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
Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome.
Arumugam V, Bhowmick R, Agarwal I, Arumadi M
Saudi J Kidney Dis Transpl 2019 May-Jun;30(3):701-705. doi: 10.4103/1319-2442.261349. PMID: 31249236
A young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy.
Lui DTW, Lee ACH, Yap DYH, Chan GSW, Tan KCB
J Clin Lipidol 2019 Mar-Apr;13(2):251-253. Epub 2018 Dec 19 doi: 10.1016/j.jacl.2018.12.004. PMID: 30685233
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 incidence of biopsy-proven primary glomerulonephritis in the Republic of Macedonia-long-term follow-up.
Polenakovic MH, Grcevska L, Dzikova S
Nephrol Dial Transplant 2003 Jul;18 Suppl 5:v26-7. doi: 10.1093/ndt/gfg1039. PMID: 12817063

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
Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome.
Arumugam V, Bhowmick R, Agarwal I, Arumadi M
Saudi J Kidney Dis Transpl 2019 May-Jun;30(3):701-705. doi: 10.4103/1319-2442.261349. PMID: 31249236
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
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
Nephrin mRNA regulation by protein kinase C.
Wang SX, Menè P, Holthöfer H
J Nephrol 2001 Mar-Apr;14(2):98-103. PMID: 11411021

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

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