U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Nephrotic syndrome, type 10(NPHS10)

MedGen UID:
862944
Concept ID:
C4014507
Disease or Syndrome
Synonym: NPHS10
 
Gene (location): EMP2 (16p13.13)
 
Monarch Initiative: MONDO:0014373
OMIM®: 615861

Definition

Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. [from MONDO]

Clinical features

From HPO
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.
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.
Podocyte foot process effacement
MedGen UID:
481733
Concept ID:
C3280103
Finding
An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.
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.

Professional guidelines

PubMed

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
Hölttä T, Jalanko H
Pediatr Nephrol 2020 Oct;35(10):1985-1990. Epub 2020 May 6 doi: 10.1007/s00467-020-04578-4. PMID: 32377865Free PMC Article
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

Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
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
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
Renaghan AD, Jaimes EA, Malyszko J, Perazella MA, Sprangers B, Rosner MH
Clin J Am Soc Nephrol 2020 Feb 7;15(2):289-297. Epub 2019 Dec 13 doi: 10.2215/CJN.08580719. PMID: 31836598Free PMC Article
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
Orphanet J Rare Dis 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. PMID: 22909024Free PMC Article

Diagnosis

Dantas M, Silva LBB, Pontes BTM, Dos Reis MA, de Lima PSN, Moysés Neto M
J Bras Nefrol 2023 Apr-Jun;45(2):229-243. doi: 10.1590/2175-8239-JBN-2023-0046en. PMID: 37527529Free PMC Article
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
Renaghan AD, Jaimes EA, Malyszko J, Perazella MA, Sprangers B, Rosner MH
Clin J Am Soc Nephrol 2020 Feb 7;15(2):289-297. Epub 2019 Dec 13 doi: 10.2215/CJN.08580719. PMID: 31836598Free PMC Article
Keri KC, Blumenthal S, Kulkarni V, Beck L, Chongkrairatanakul T
Postgrad Med J 2019 Jan;95(1119):23-31. Epub 2019 Jan 25 doi: 10.1136/postgradmedj-2018-135729. PMID: 30683678

Therapy

Dantas M, Silva LBB, Pontes BTM, Dos Reis MA, de Lima PSN, Moysés Neto M
J Bras Nefrol 2023 Apr-Jun;45(2):229-243. doi: 10.1590/2175-8239-JBN-2023-0046en. PMID: 37527529Free 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
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Renaghan AD, Jaimes EA, Malyszko J, Perazella MA, Sprangers B, Rosner MH
Clin J Am Soc Nephrol 2020 Feb 7;15(2):289-297. Epub 2019 Dec 13 doi: 10.2215/CJN.08580719. PMID: 31836598Free PMC Article
Keri KC, Blumenthal S, Kulkarni V, Beck L, Chongkrairatanakul T
Postgrad Med J 2019 Jan;95(1119):23-31. Epub 2019 Jan 25 doi: 10.1136/postgradmedj-2018-135729. PMID: 30683678

Prognosis

Dantas M, Silva LBB, Pontes BTM, Dos Reis MA, de Lima PSN, Moysés Neto M
J Bras Nefrol 2023 Apr-Jun;45(2):229-243. doi: 10.1590/2175-8239-JBN-2023-0046en. PMID: 37527529Free PMC Article
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Renaghan AD, Jaimes EA, Malyszko J, Perazella MA, Sprangers B, Rosner MH
Clin J Am Soc Nephrol 2020 Feb 7;15(2):289-297. Epub 2019 Dec 13 doi: 10.2215/CJN.08580719. PMID: 31836598Free PMC Article
Keri KC, Blumenthal S, Kulkarni V, Beck L, Chongkrairatanakul T
Postgrad Med J 2019 Jan;95(1119):23-31. Epub 2019 Jan 25 doi: 10.1136/postgradmedj-2018-135729. PMID: 30683678
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
Orphanet J Rare Dis 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. PMID: 22909024Free PMC Article

Clinical prediction guides

Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
Qi Z, Yuan S, Wei J, Xia S, Huang Y, Chen X, Han Y, Li Z, Xiao Y, Peng F, Fu X, Sun L, Liu H, Zhu X
J Med Virol 2023 Oct;95(10):e29196. doi: 10.1002/jmv.29196. PMID: 37881096
Nada T, Sato M, Yoshikawa T, Ogura M, Kamei K
Pediatr Nephrol 2021 Nov;36(11):3795-3798. Epub 2021 Aug 12 doi: 10.1007/s00467-021-05225-2. PMID: 34383124
Kleiner G, Barca E, Ziosi M, Emmanuele V, Xu Y, Hidalgo-Gutierrez A, Qiao C, Tadesse S, Area-Gomez E, Lopez LC, Quinzii CM
Biochim Biophys Acta Mol Basis Dis 2018 Nov;1864(11):3708-3722. Epub 2018 Sep 6 doi: 10.1016/j.bbadis.2018.09.002. PMID: 30251690Free PMC Article
Anglés-Cano E, de la Peña Díaz A, Loyau S
Ann N Y Acad Sci 2001;936:261-75. doi: 10.1111/j.1749-6632.2001.tb03514.x. PMID: 11460483

Recent systematic reviews

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
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567
Wu S, Kim C, Baer L, Zhu X
J Am Soc Nephrol 2010 Aug;21(8):1381-9. Epub 2010 Jun 10 doi: 10.1681/ASN.2010020167. PMID: 20538785Free PMC Article
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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...