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Nephrotic syndrome, type 3(NPHS3)

MedGen UID:
377831
•Concept ID:
C1853124
•
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3; NPHS3
 
Gene (location): PLCE1 (10q23.33)
 
Monarch Initiative: MONDO:0012546
OMIM®: 610725

Definition

Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006). Most patients with nephrotic syndrome type 3 (NPHS3) show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). [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
Nephrotic syndrome
MedGen UID:
10308
•Concept ID:
C0027726
•
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
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Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
See: Feature record | Search on this feature
Diffuse mesangial sclerosis
MedGen UID:
78698
•Concept ID:
C0268747
•
Disease or Syndrome
Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
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.
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Edema
MedGen UID:
4451
•Concept ID:
C0013604
•
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
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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

Nutritional Management of Idiopathic Nephrotic Syndrome in Pediatric Age.
Lella G, Pecoraro L, Benetti E, Arnone OC, Piacentini G, Brugnara M, Pietrobelli A
Med Sci (Basel) 2023 Jul 28;11(3) doi: 10.3390/medsci11030047. PMID: 37606426Free PMC Article
Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.
Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M
Nat Rev Nephrol 2021 Apr;17(4):277-289. Epub 2021 Jan 29 doi: 10.1038/s41581-020-00384-1. PMID: 33514942Free PMC Article
Nephrotic syndrome in infants and children: pathophysiology and management.
Downie ML, Gallibois C, Parekh RS, Noone DG
Paediatr Int Child Health 2017 Nov;37(4):248-258. Epub 2017 Sep 15 doi: 10.1080/20469047.2017.1374003. PMID: 28914167

Recent clinical studies

Therapy

Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey.
Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
Long-Term Efficacy and Safety of Repeated Rituximab to Maintain Remission in Idiopathic Childhood Nephrotic Syndrome: An International Study.
Chan EY, Yu ELM, Angeletti A, Arslan Z, Basu B, Boyer O, Chan CY, Colucci M, Dorval G, Dossier C, Drovandi S, Ghiggeri GM, Gipson DS, Hamada R, Hogan J, Ishikura K, Kamei K, Kemper MJ, Ma AL, Parekh RS, Radhakrishnan S, Saini P, Shen Q, Sinha R, Subun C, Teo S, Vivarelli M, Webb H, Xu H, Yap HK, Tullus K
J Am Soc Nephrol 2022 Jun;33(6):1193-1207. Epub 2022 Mar 30 doi: 10.1681/ASN.2021111472. PMID: 35354600Free PMC Article
Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.
Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M
Nat Rev Nephrol 2021 Apr;17(4):277-289. Epub 2021 Jan 29 doi: 10.1038/s41581-020-00384-1. PMID: 33514942Free 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
Immunology of idiopathic nephrotic syndrome.
Colucci M, Corpetti G, Emma F, Vivarelli M
Pediatr Nephrol 2018 Apr;33(4):573-584. Epub 2017 Apr 27 doi: 10.1007/s00467-017-3677-5. PMID: 28451893

Prognosis

Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey.
Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
Long-Term Efficacy and Safety of Repeated Rituximab to Maintain Remission in Idiopathic Childhood Nephrotic Syndrome: An International Study.
Chan EY, Yu ELM, Angeletti A, Arslan Z, Basu B, Boyer O, Chan CY, Colucci M, Dorval G, Dossier C, Drovandi S, Ghiggeri GM, Gipson DS, Hamada R, Hogan J, Ishikura K, Kamei K, Kemper MJ, Ma AL, Parekh RS, Radhakrishnan S, Saini P, Shen Q, Sinha R, Subun C, Teo S, Vivarelli M, Webb H, Xu H, Yap HK, Tullus K
J Am Soc Nephrol 2022 Jun;33(6):1193-1207. Epub 2022 Mar 30 doi: 10.1681/ASN.2021111472. PMID: 35354600Free 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
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
Nephrotic syndrome in infants and children: pathophysiology and management.
Downie ML, Gallibois C, Parekh RS, Noone DG
Paediatr Int Child Health 2017 Nov;37(4):248-258. Epub 2017 Sep 15 doi: 10.1080/20469047.2017.1374003. PMID: 28914167

Clinical prediction guides

Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey.
Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
Childhood nephrotic syndrome and the clinical profile of thromboembolism: a systematic review and meta-analysis.
Dadgar K, Xue Y, Chung J, Sangar S, Bhatt M, Chan AKC, Geddie H, Chanchlani R
Pediatr Res 2023 May;93(6):1463-1469. Epub 2022 Sep 20 doi: 10.1038/s41390-022-02302-6. PMID: 36127405
The Immune System and Idiopathic Nephrotic Syndrome.
Campbell RE, Thurman JM
Clin J Am Soc Nephrol 2022 Dec;17(12):1823-1834. Epub 2022 Oct 5 doi: 10.2215/CJN.07180622. PMID: 36198505Free PMC Article
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
Rituximab-associated agranulocytosis in children with refractory idiopathic nephrotic syndrome: case series and review of literature.
Kamei K, Takahashi M, Fuyama M, Saida K, Machida H, Sato M, Ogura M, Ito S
Nephrol Dial Transplant 2015 Jan;30(1):91-6. Epub 2014 Aug 1 doi: 10.1093/ndt/gfu258. PMID: 25085238

Recent systematic reviews

Childhood nephrotic syndrome and the clinical profile of thromboembolism: a systematic review and meta-analysis.
Dadgar K, Xue Y, Chung J, Sangar S, Bhatt M, Chan AKC, Geddie H, Chanchlani R
Pediatr Res 2023 May;93(6):1463-1469. Epub 2022 Sep 20 doi: 10.1038/s41390-022-02302-6. PMID: 36127405
The Italian Society for Pediatric Nephrology (SINePe) consensus document on the management of nephrotic syndrome in children: Part I - Diagnosis and treatment of the first episode and the first relapse.
Pasini A, Benetti E, Conti G, Ghio L, Lepore M, Massella L, Molino D, Peruzzi L, Emma F, Fede C, Trivelli A, Maringhini S, Materassi M, Messina G, Montini G, Murer L, Pecoraro C, Pennesi M
Ital J Pediatr 2017 Apr 21;43(1):41. doi: 10.1186/s13052-017-0356-x. PMID: 28427453Free PMC Article

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