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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.
See: Feature record | Search on this feature
Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Acute kidney injury in patients with primary nephrotic syndrome: influencing factors and coping strategies.
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
Characterization of autoantibodies in primary membranous nephropathy and their clinical significance.
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
Treatment of severe steroid-dependent nephrotic syndrome (SDNS) in children with tacrolimus.
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

Renal leishmaniasis as unusual cause of nephrotic syndrome in an HIV patient.
Amann K, Bogdan C, Harrer T, Rech J
J Am Soc Nephrol 2012 Apr;23(4):586-90. Epub 2012 Jan 26 doi: 10.1681/ASN.2011050472. PMID: 22282598Free PMC Article
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F; Members of the APN Study Group
Nephrol Dial Transplant 2008 Nov;23(11):3527-33. Epub 2008 May 23 doi: 10.1093/ndt/gfn271. PMID: 18503012Free PMC Article
Glomerular expression of plasmalemmal vesicle-associated protein-1 in patients with transplant glomerulopathy.
Yamamoto I, Horita S, Takahashi T, Tanabe K, Fuchinoue S, Teraoka S, Hattori M, Yamaguchi Y
Am J Transplant 2007 Aug;7(8):1954-60. doi: 10.1111/j.1600-6143.2007.01876.x. PMID: 17617859
Long versus standard initial steroid therapy for children with the nephrotic syndromeA report from the Southwest Pediatric Nephrology Study Group.
Lande MB, Gullion C, Hogg RJ, Gauthier B, Shah B, Leonard MB, Bonilla-Felix M, Nash M, Roy S 3rd, Strife CF, Arbus G
Pediatr Nephrol 2003 Apr;18(4):342-6. Epub 2003 Mar 21 doi: 10.1007/s00467-002-1052-6. PMID: 12700959
Angiotensin II antagonism improves the lipoprotein profile in patients with nephrotic syndrome.
de Zeeuw D, Gansevoort RT, Dullaart RP, de Jong PE
J Hypertens Suppl 1995 Jul;13(1):S53-8. doi: 10.1097/00004872-199507001-00008. PMID: 18800457

Diagnosis

Collagenofibrotic Glomerulopathy: Report a Rare Case.
Agarwal R, Baid R, Mukhopadhyay J
Arch Iran Med 2020 Jun 1;23(6):409-411. doi: 10.34172/aim.2020.35. PMID: 32536179
Glomerulonephritis Histopathological Pattern Change.
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
Primary membranous nephropathy: comprehensive review and historical perspective.
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
Characterization of autoantibodies in primary membranous nephropathy and their clinical significance.
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
Renal leishmaniasis as unusual cause of nephrotic syndrome in an HIV patient.
Amann K, Bogdan C, Harrer T, Rech J
J Am Soc Nephrol 2012 Apr;23(4):586-90. Epub 2012 Jan 26 doi: 10.1681/ASN.2011050472. PMID: 22282598Free PMC Article

Therapy

Primary membranous nephropathy: comprehensive review and historical perspective.
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
Characterization of autoantibodies in primary membranous nephropathy and their clinical significance.
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
Renal leishmaniasis as unusual cause of nephrotic syndrome in an HIV patient.
Amann K, Bogdan C, Harrer T, Rech J
J Am Soc Nephrol 2012 Apr;23(4):586-90. Epub 2012 Jan 26 doi: 10.1681/ASN.2011050472. PMID: 22282598Free PMC Article
Long versus standard initial steroid therapy for children with the nephrotic syndromeA report from the Southwest Pediatric Nephrology Study Group.
Lande MB, Gullion C, Hogg RJ, Gauthier B, Shah B, Leonard MB, Bonilla-Felix M, Nash M, Roy S 3rd, Strife CF, Arbus G
Pediatr Nephrol 2003 Apr;18(4):342-6. Epub 2003 Mar 21 doi: 10.1007/s00467-002-1052-6. PMID: 12700959
Angiotensin II antagonism improves the lipoprotein profile in patients with nephrotic syndrome.
de Zeeuw D, Gansevoort RT, Dullaart RP, de Jong PE
J Hypertens Suppl 1995 Jul;13(1):S53-8. doi: 10.1097/00004872-199507001-00008. PMID: 18800457

Prognosis

Glomerulonephritis Histopathological Pattern Change.
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
Primary membranous nephropathy: comprehensive review and historical perspective.
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
Renal leishmaniasis as unusual cause of nephrotic syndrome in an HIV patient.
Amann K, Bogdan C, Harrer T, Rech J
J Am Soc Nephrol 2012 Apr;23(4):586-90. Epub 2012 Jan 26 doi: 10.1681/ASN.2011050472. PMID: 22282598Free PMC Article
Glomerular expression of plasmalemmal vesicle-associated protein-1 in patients with transplant glomerulopathy.
Yamamoto I, Horita S, Takahashi T, Tanabe K, Fuchinoue S, Teraoka S, Hattori M, Yamaguchi Y
Am J Transplant 2007 Aug;7(8):1954-60. doi: 10.1111/j.1600-6143.2007.01876.x. PMID: 17617859
Long versus standard initial steroid therapy for children with the nephrotic syndromeA report from the Southwest Pediatric Nephrology Study Group.
Lande MB, Gullion C, Hogg RJ, Gauthier B, Shah B, Leonard MB, Bonilla-Felix M, Nash M, Roy S 3rd, Strife CF, Arbus G
Pediatr Nephrol 2003 Apr;18(4):342-6. Epub 2003 Mar 21 doi: 10.1007/s00467-002-1052-6. PMID: 12700959

Clinical prediction guides

A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
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
Concurrent IgA Nephropathy and Membranous Nephropathy, Is It an Overlap Syndrome?
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
Glomerulonephritis Histopathological Pattern Change.
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
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.
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
Glomerular expression of plasmalemmal vesicle-associated protein-1 in patients with transplant glomerulopathy.
Yamamoto I, Horita S, Takahashi T, Tanabe K, Fuchinoue S, Teraoka S, Hattori M, Yamaguchi Y
Am J Transplant 2007 Aug;7(8):1954-60. doi: 10.1111/j.1600-6143.2007.01876.x. PMID: 17617859

Recent systematic reviews

Nephrotic syndrome associated with solid malignancies: a systematic review.
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
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
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
Sphingosine phosphate lyase insufficiency syndrome: a systematic review.
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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