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Nephrotic syndrome 15(NPHS15)

MedGen UID:
1620414
•Concept ID:
C4539896
•
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 15; NPHS15
 
Gene (location): MAGI2 (7q21.11)
 
Monarch Initiative: MONDO:0033262
OMIM®: 617609

Definition

Nephrotic syndrome type 15 (NPHS15) is an autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the first months of life. The disease course and severity varies widely. Some patients show rapid progression to end-stage renal failure necessitating transplant, whereas others have a more benign course that can be managed with medication. Renal biopsy tends to show glomerular sclerosis and effacement of podocyte foot processes (summary by Bierzynska et al., 2017). For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). [from OMIM]

Clinical features

From HPO
Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
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
Lipoid nephrosis
MedGen UID:
10307
•Concept ID:
C0027721
•
Disease or Syndrome
The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.
See: Feature record | Search on this feature
Hypoalbuminemia
MedGen UID:
68694
•Concept ID:
C0239981
•
Finding
Reduction in the concentration of albumin in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Immunoglobulin light chain amyloidosis: 2022 update on diagnosis, prognosis, and treatment.
Gertz MA
Am J Hematol 2022 Jun 1;97(6):818-829. Epub 2022 Apr 25 doi: 10.1002/ajh.26569. PMID: 35429180
Primary Membranous Nephropathy.
Couser WG
Clin J Am Soc Nephrol 2017 Jun 7;12(6):983-997. Epub 2017 May 26 doi: 10.2215/CJN.11761116. PMID: 28550082Free PMC Article

Recent clinical studies

Etiology

Circulating plasmablasts in children with steroid-sensitive nephrotic syndrome.
Zotta F, Vivarelli M, Carsetti R, Cascioli S, Emma F, Colucci M
Pediatr Nephrol 2022 Feb;37(2):455-459. Epub 2021 Oct 18 doi: 10.1007/s00467-021-05273-8. PMID: 34661744
Childhood onset steroid-sensitive nephrotic syndrome continues into adulthood.
Korsgaard T, Andersen RF, Joshi S, Hagstrøm S, Rittig S
Pediatr Nephrol 2019 Apr;34(4):641-648. Epub 2018 Nov 13 doi: 10.1007/s00467-018-4119-8. PMID: 30426221
Idiopathic nephrotic syndrome in children.
Noone DG, Iijima K, Parekh R
Lancet 2018 Jul 7;392(10141):61-74. Epub 2018 Jun 14 doi: 10.1016/S0140-6736(18)30536-1. PMID: 29910038
The incidence of the nephrotic syndrome in childhood in Germany.
Franke I, Aydin M, Llamas Lopez CE, Kurylowicz L, Ganschow R, Lentze M, Born M
Clin Exp Nephrol 2018 Feb;22(1):126-132. Epub 2017 Jun 22 doi: 10.1007/s10157-017-1433-6. PMID: 28643120
Mycophenolate mofetil in steroid-dependent idiopathic nephrotic syndrome.
Dehoux L, Hogan J, Dossier C, Fila M, Niel O, Maisin A, Macher MA, Kwon T, Baudouin V, Deschênes G
Pediatr Nephrol 2016 Nov;31(11):2095-101. Epub 2016 Jun 4 doi: 10.1007/s00467-016-3400-y. PMID: 27263020

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
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Circulating plasmablasts in children with steroid-sensitive nephrotic syndrome.
Zotta F, Vivarelli M, Carsetti R, Cascioli S, Emma F, Colucci M
Pediatr Nephrol 2022 Feb;37(2):455-459. Epub 2021 Oct 18 doi: 10.1007/s00467-021-05273-8. PMID: 34661744
The incidence of the nephrotic syndrome in childhood in Germany.
Franke I, Aydin M, Llamas Lopez CE, Kurylowicz L, Ganschow R, Lentze M, Born M
Clin Exp Nephrol 2018 Feb;22(1):126-132. Epub 2017 Jun 22 doi: 10.1007/s10157-017-1433-6. PMID: 28643120
Hypothyroidism and Nephrotic Syndrome: Why, When and How to Treat.
Mario FD, Pofi R, Gigante A, Rivoli L, Rosato E, Isidori AM, Cianci R, Barbano B
Curr Vasc Pharmacol 2017;15(5):398-403. doi: 10.2174/1570161115999170207114706. PMID: 28176633

Therapy

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
An update on LDL apheresis for nephrotic syndrome.
Raina R, Krishnappa V
Pediatr Nephrol 2019 Oct;34(10):1655-1669. Epub 2018 Sep 14 doi: 10.1007/s00467-018-4061-9. PMID: 30218191
Idiopathic nephrotic syndrome in children.
Noone DG, Iijima K, Parekh R
Lancet 2018 Jul 7;392(10141):61-74. Epub 2018 Jun 14 doi: 10.1016/S0140-6736(18)30536-1. PMID: 29910038
Hypothyroidism and Nephrotic Syndrome: Why, When and How to Treat.
Mario FD, Pofi R, Gigante A, Rivoli L, Rosato E, Isidori AM, Cianci R, Barbano B
Curr Vasc Pharmacol 2017;15(5):398-403. doi: 10.2174/1570161115999170207114706. PMID: 28176633
Mesangial IgM nephropathy.
Tejani A, Nicastri AD
Nephron 1983;35(1):1-5. doi: 10.1159/000183035. PMID: 6350912

Prognosis

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Idiopathic nephrotic syndrome in children.
Noone DG, Iijima K, Parekh R
Lancet 2018 Jul 7;392(10141):61-74. Epub 2018 Jun 14 doi: 10.1016/S0140-6736(18)30536-1. PMID: 29910038
The incidence of the nephrotic syndrome in childhood in Germany.
Franke I, Aydin M, Llamas Lopez CE, Kurylowicz L, Ganschow R, Lentze M, Born M
Clin Exp Nephrol 2018 Feb;22(1):126-132. Epub 2017 Jun 22 doi: 10.1007/s10157-017-1433-6. PMID: 28643120
Recent Advances in Treatments of Primary Focal Segmental Glomerulosclerosis in Children.
Han KH, Kim SH
Biomed Res Int 2016;2016:3053706. Epub 2016 Apr 18 doi: 10.1155/2016/3053706. PMID: 27195285Free PMC Article
Cytotoxics, cyclosporine and membranous nephropathy.
Cattran DC
Curr Opin Nephrol Hypertens 1996 Sep;5(5):427-36. doi: 10.1097/00041552-199609000-00009. PMID: 8937812

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
Circulating plasmablasts in children with steroid-sensitive nephrotic syndrome.
Zotta F, Vivarelli M, Carsetti R, Cascioli S, Emma F, Colucci M
Pediatr Nephrol 2022 Feb;37(2):455-459. Epub 2021 Oct 18 doi: 10.1007/s00467-021-05273-8. PMID: 34661744
Recent Advances in Treatments of Primary Focal Segmental Glomerulosclerosis in Children.
Han KH, Kim SH
Biomed Res Int 2016;2016:3053706. Epub 2016 Apr 18 doi: 10.1155/2016/3053706. PMID: 27195285Free PMC Article
Inhibitor development in haemophilia B: an orphan disease in need of attention.
DiMichele D
Br J Haematol 2007 Aug;138(3):305-15. doi: 10.1111/j.1365-2141.2007.06657.x. PMID: 17614818
Idiopathic membranous nephropathy: outline and rationale of a treatment strategy.
du Buf-Vereijken PW, Branten AJ, Wetzels JF
Am J Kidney Dis 2005 Dec;46(6):1012-29. doi: 10.1053/j.ajkd.2005.08.020. PMID: 16310567

Recent systematic reviews

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Interventions for minimal change disease in adults with nephrotic syndrome.
Azukaitis K, Palmer SC, Strippoli GF, Hodson EM
Cochrane Database Syst Rev 2022 Mar 1;3(3):CD001537. doi: 10.1002/14651858.CD001537.pub5. PMID: 35230699Free 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
Immunosuppressive treatment for primary membranous nephropathy in adults with nephrotic syndrome.
von Groote TC, Williams G, Au EH, Chen Y, Mathew AT, Hodson EM, Tunnicliffe DJ
Cochrane Database Syst Rev 2021 Nov 15;11(11):CD004293. doi: 10.1002/14651858.CD004293.pub4. PMID: 34778952Free PMC Article
Rituximab therapy for focal segmental glomerulosclerosis and minimal change disease in adults: a systematic review and meta-analysis.
Hansrivijit P, Cheungpasitporn W, Thongprayoon C, Ghahramani N
BMC Nephrol 2020 Apr 15;21(1):134. doi: 10.1186/s12882-020-01797-7. PMID: 32293308Free PMC Article

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