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Nephrotic syndrome, type 23(NPHS23)

MedGen UID:
1787011
Concept ID:
C5543092
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 23; NPHS23
 
Gene (location): KIRREL1 (1q23.1)
 
Monarch Initiative: MONDO:0030962
OMIM®: 619201

Definition

Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by Solanki et al., 2019). 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.
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.
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.
Mesangial hypercellularity
MedGen UID:
924090
Concept ID:
C4281741
Cell or Molecular Dysfunction
Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.
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

Lu H, Xiao L, Song M, Liu X, Wang F
BMC Nephrol 2022 Mar 5;23(1):90. doi: 10.1186/s12882-022-02720-y. PMID: 35247980Free 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
Sinha MD, MacLeod R, Rigby E, Clark AG
Nephrol Dial Transplant 2006 Jul;21(7):1848-54. Epub 2005 Nov 25 doi: 10.1093/ndt/gfi274. PMID: 16311257

Recent clinical studies

Etiology

Kelddal S, Hvas AM, Grove EL, Birn H
BMC Nephrol 2022 Sep 5;23(1):305. doi: 10.1186/s12882-022-02929-x. PMID: 36064370Free PMC Article
Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; PodoNet Consortium
Clin J Am Soc Nephrol 2015 Apr 7;10(4):592-600. Epub 2015 Jan 29 doi: 10.2215/CJN.06260614. PMID: 25635037Free PMC Article
Mehrazma M, Otukesh H, Madani A, Hooman N, Bedayat A, Dianati Maleki N, Ehteshami Afshar A, Hoseini R
Iran J Kidney Dis 2012 Nov;6(6):426-31. PMID: 23146979
Akpolat T, Dilek M, Aksu K, Keser G, Toprak O, Cirit M, Oğuz Y, Taşkapan H, Adibelli Z, Akar H, Tokgöz B, Arici M, Celiker H, Diri B, Akpolat I
Semin Arthritis Rheum 2008 Dec;38(3):241-8. Epub 2008 Jan 25 doi: 10.1016/j.semarthrit.2007.11.001. PMID: 18221990
Santa Cruz F, Cabrera W, Barreto S, Mayor MM, Báez D
Kidney Int Suppl 2005 Aug;(97):S120-5. doi: 10.1111/j.1523-1755.2005.09720.x. PMID: 16014089

Diagnosis

Pournasiri Z, Madani A, Nazarpack F, Sayer JA, Chavoshzadeh Z, Nili F, Tran P, Saba JD, Jamee M
World J Pediatr 2023 May;19(5):425-437. Epub 2022 Nov 12 doi: 10.1007/s12519-022-00615-4. PMID: 36371483
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free 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
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750
Akpolat T, Dilek M, Aksu K, Keser G, Toprak O, Cirit M, Oğuz Y, Taşkapan H, Adibelli Z, Akar H, Tokgöz B, Arici M, Celiker H, Diri B, Akpolat I
Semin Arthritis Rheum 2008 Dec;38(3):241-8. Epub 2008 Jan 25 doi: 10.1016/j.semarthrit.2007.11.001. PMID: 18221990

Therapy

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
Takada T, Masaki T, Hoshiyama A, Toki T, Kamata Y, Shichiri M
Nephrology (Carlton) 2018 Sep;23(9):883-886. doi: 10.1111/nep.13390. PMID: 29665203
Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; PodoNet Consortium
Clin J Am Soc Nephrol 2015 Apr 7;10(4):592-600. Epub 2015 Jan 29 doi: 10.2215/CJN.06260614. PMID: 25635037Free PMC Article
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750

Prognosis

AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free 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
Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; PodoNet Consortium
Clin J Am Soc Nephrol 2015 Apr 7;10(4):592-600. Epub 2015 Jan 29 doi: 10.2215/CJN.06260614. PMID: 25635037Free PMC Article
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750
Santa Cruz F, Cabrera W, Barreto S, Mayor MM, Báez D
Kidney Int Suppl 2005 Aug;(97):S120-5. doi: 10.1111/j.1523-1755.2005.09720.x. PMID: 16014089

Clinical prediction guides

He JW, Cui DF, Zhou XJ, Chen P, Li Y, Zhang X, Wang YN, Gan T, Liu LJ, Shi SF, Zhu L, Hou P, Lv JC, Zhang H
Front Immunol 2022;13:846323. Epub 2022 Mar 11 doi: 10.3389/fimmu.2022.846323. PMID: 35359934Free PMC Article
Haffner D, Grund A, Leifheit-Nestler M
Pediatr Nephrol 2021 Aug;36(8):2511-2530. Epub 2021 Jun 18 doi: 10.1007/s00467-021-05097-6. PMID: 34143299Free PMC Article
Lin SP, Zhu FG, Meng JL, Sun XW, Cui J, Liang S, Yin Z, Sun XF, Cai GY
Chin Med J (Engl) 2020 Nov 4;134(2):206-211. doi: 10.1097/CM9.0000000000001218. PMID: 33443939Free PMC Article
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; PodoNet Consortium
Clin J Am Soc Nephrol 2015 Apr 7;10(4):592-600. Epub 2015 Jan 29 doi: 10.2215/CJN.06260614. PMID: 25635037Free PMC Article

Recent systematic reviews

Liu S, Wan Y, Hu Z, Wang Z, Liu F
BMC Nephrol 2024 Jul 4;25(1):215. doi: 10.1186/s12882-024-03632-9. PMID: 38965515Free PMC Article
Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340
Pournasiri Z, Madani A, Nazarpack F, Sayer JA, Chavoshzadeh Z, Nili F, Tran P, Saba JD, Jamee M
World J Pediatr 2023 May;19(5):425-437. Epub 2022 Nov 12 doi: 10.1007/s12519-022-00615-4. PMID: 36371483

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