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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

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.
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.
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.
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.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.

Professional guidelines

PubMed

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
Gertz MA
Am J Hematol 2022 Jun 1;97(6):818-829. Epub 2022 Apr 25 doi: 10.1002/ajh.26569. PMID: 35429180
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

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
Christian MT, Webb NJA, Mehta S, Woolley RL, Afentou N, Frew E, Brettell EA, Khan AR, Milford DV, Bockenhauer D, Saleem MA, Hall AS, Koziell A, Maxwell H, Hegde S, Prajapati H, Gilbert RD, Jones C, McKeever K, Cook W, Ives N
JAMA Pediatr 2022 Mar 1;176(3):236-243. doi: 10.1001/jamapediatrics.2021.5189. PMID: 34928294Free PMC Article
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
Person F, Rinschen MM, Brix SR, Wulf S, Noriega MLM, Fehrle W, Schmitz J, Schwarz A, Ivanyi P, Steinmetz OM, Reinhard L, Hoxha E, Zipfel PF, Bräsen JH, Wiech T
Mod Pathol 2019 May;32(5):684-700. Epub 2018 Dec 14 doi: 10.1038/s41379-018-0186-4. PMID: 30552416
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

Diagnosis

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
Christian MT, Webb NJA, Mehta S, Woolley RL, Afentou N, Frew E, Brettell EA, Khan AR, Milford DV, Bockenhauer D, Saleem MA, Hall AS, Koziell A, Maxwell H, Hegde S, Prajapati H, Gilbert RD, Jones C, McKeever K, Cook W, Ives N
JAMA Pediatr 2022 Mar 1;176(3):236-243. doi: 10.1001/jamapediatrics.2021.5189. PMID: 34928294Free PMC Article
Person F, Rinschen MM, Brix SR, Wulf S, Noriega MLM, Fehrle W, Schmitz J, Schwarz A, Ivanyi P, Steinmetz OM, Reinhard L, Hoxha E, Zipfel PF, Bräsen JH, Wiech T
Mod Pathol 2019 May;32(5):684-700. Epub 2018 Dec 14 doi: 10.1038/s41379-018-0186-4. PMID: 30552416
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
Andolino TP, Reid-Adam J
Pediatr Rev 2015 Mar;36(3):117-25; quiz 126, 129. doi: 10.1542/pir.36-3-117. PMID: 25733763

Therapy

Xu Y, Yang Q, Fu C, Han E, Gao Y
BMJ Open 2023 Jan 18;13(1):e064220. doi: 10.1136/bmjopen-2022-064220. PMID: 36657752Free PMC Article
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
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
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
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

Prognosis

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
Gorsane I, Ayed TB, Hajji M, Barbouch S, Abdallah TB
Saudi J Kidney Dis Transpl 2021 Sep-Oct;32(5):1388-1396. doi: 10.4103/1319-2442.344759. PMID: 35532709
Basu B, Sander A, Roy B, Preussler S, Barua S, Mahapatra TKS, Schaefer F
JAMA Pediatr 2018 Aug 1;172(8):757-764. doi: 10.1001/jamapediatrics.2018.1323. PMID: 29913001Free PMC Article
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
Andolino TP, Reid-Adam J
Pediatr Rev 2015 Mar;36(3):117-25; quiz 126, 129. doi: 10.1542/pir.36-3-117. PMID: 25733763

Clinical prediction guides

Cremoni M, Agbekodo S, Teisseyre M, Zorzi K, Brglez V, Benzaken S, Esnault V, Planchard JH, Seitz-Polski B
Clin J Am Soc Nephrol 2022 Nov;17(11):1609-1619. Epub 2022 Oct 25 doi: 10.2215/CJN.02930322. PMID: 36283759Free PMC Article
Dong JH, Xu ST, Xu F, Zhou YC, Li Z, Li SJ
Clin Exp Nephrol 2021 Mar;25(3):270-278. Epub 2021 Jan 4 doi: 10.1007/s10157-020-02012-5. PMID: 33398597
Person F, Rinschen MM, Brix SR, Wulf S, Noriega MLM, Fehrle W, Schmitz J, Schwarz A, Ivanyi P, Steinmetz OM, Reinhard L, Hoxha E, Zipfel PF, Bräsen JH, Wiech T
Mod Pathol 2019 May;32(5):684-700. Epub 2018 Dec 14 doi: 10.1038/s41379-018-0186-4. PMID: 30552416
Andolino TP, Reid-Adam J
Pediatr Rev 2015 Mar;36(3):117-25; quiz 126, 129. doi: 10.1542/pir.36-3-117. PMID: 25733763
Ruggenenti P, Ruggiero B, Cravedi P, Vivarelli M, Massella L, Marasà M, Chianca A, Rubis N, Ene-Iordache B, Rudnicki M, Pollastro RM, Capasso G, Pisani A, Pennesi M, Emma F, Remuzzi G; Rituximab in Nephrotic Syndrome of Steroid-Dependent or Frequently Relapsing Minimal Change Disease Or Focal Segmental Glomerulosclerosis (NEMO) Study Group
J Am Soc Nephrol 2014 Apr;25(4):850-63. Epub 2014 Jan 30 doi: 10.1681/ASN.2013030251. PMID: 24480824Free PMC Article

Recent systematic reviews

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
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
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
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
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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