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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
Stahl RA, Reinhard L, Hoxha E
Expert Rev Clin Immunol 2019 Feb;15(2):165-175. Epub 2018 Nov 27 doi: 10.1080/1744666X.2019.1548934. PMID: 30433832

Recent clinical studies

Etiology

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
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
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
Schoeneman MJ, Bennett B, Greifer I
Clin Nephrol 1978 Feb;9(2):45-54. PMID: 639366

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
Nieto-Gañán I, Iturrieta-Zuazo I, Rita C, Carrasco-Sayalero Á
Clin Immunol 2022 Apr;237:108976. Epub 2022 Mar 9 doi: 10.1016/j.clim.2022.108976. PMID: 35276323
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
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
Stahl RA, Reinhard L, Hoxha E
Expert Rev Clin Immunol 2019 Feb;15(2):165-175. Epub 2018 Nov 27 doi: 10.1080/1744666X.2019.1548934. PMID: 30433832

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
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
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
Stahl RA, Reinhard L, Hoxha E
Expert Rev Clin Immunol 2019 Feb;15(2):165-175. Epub 2018 Nov 27 doi: 10.1080/1744666X.2019.1548934. PMID: 30433832

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
Nakamura M, Kanda S, Yoshioka Y, Takahashi C, Owada K, Kajiho Y, Harita Y, Oka A
CEN Case Rep 2020 May;9(2):173-176. Epub 2020 Jan 22 doi: 10.1007/s13730-020-00449-x. PMID: 31970629Free 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

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
Pugliese GM, Salaris F, Palermo V, Marabitti V, Morina N, Rosa A, Franchitto A, Pichierri P
Dis Model Mech 2019 Oct 17;12(10) doi: 10.1242/dmm.039487. PMID: 31515241Free PMC Article
Anderson M, Kim EY, Hagmann H, Benzing T, Dryer SE
Am J Physiol Cell Physiol 2013 Aug 1;305(3):C276-89. Epub 2013 May 8 doi: 10.1152/ajpcell.00095.2013. PMID: 23657570
Nishijima R, Araki A, Ando M, Nemoto T, Ohashi K, Kobayashi Y, Chiba Y, Horiuchi T, Morio K, Sawabe M, Hosoi T
Intern Med 2005 Oct;44(10):1078-83. doi: 10.2169/internalmedicine.44.1078. PMID: 16293921
Hattori M, Horita S, Yoshioka T, Yamaguchi Y, Kawaguchi H, Ito K
Am J Kidney Dis 1997 Nov;30(5):632-8. doi: 10.1016/s0272-6386(97)90486-8. PMID: 9370177

Recent systematic reviews

Gao D, Lu LP, Zhao ZG
Int Urol Nephrol 2023 Oct;55(10):2517-2526. Epub 2023 Mar 24 doi: 10.1007/s11255-023-03561-w. PMID: 36961513
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;2013(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567Free 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

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