Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Nephrotic syndrome, type 23(NPHS23)

MedGen UID:: 1787011
•Concept ID:: C5543092
•: Disease or Syndrome

Synonyms:	NEPHROTIC SYNDROME, TYPE 23; NPHS23

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

Show all Hide all

Abnormality of the genitourinary system
Abnormality of the immune system
- Lipoid nephrosis

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: 35247980 Free 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

See all (6)

Recent clinical studies

Etiology

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: 35359934 Free PMC Article

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: 35247980 Free 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: 25635037 Free PMC Article

Proteinuria Increases Plasma Phosphate by Altering Its Tubular Handling.

de Seigneux S, Courbebaisse M, Rutkowski JM, Wilhelm-Bals A, Metzger M, Khodo SN, Hasler U, Chehade H, Dizin E, Daryadel A, Stengel B; NephroTest Study Group, Girardin E, Prié D, Wagner CA, Scherer PE, Martin PY, Houillier P, Feraille E
J Am Soc Nephrol 2015 Jul;26(7):1608-18. Epub 2014 Oct 27 doi: 10.1681/ASN.2014010104. PMID: 25349200 Free PMC Article

Renal Behçet's disease: an update.

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

See all (72)

Diagnosis

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

The characteristics of patients with kidney light chain deposition disease concurrent with light chain amyloidosis.

Said SM, Best Rocha A, Valeri AM, Paueksakon P, Dasari S, Theis JD, Vrana JA, Obadina MO, Saghafi D, Alexander MP, Sethi S, Larsen CP, Joly F, Dispenzieri A, Bridoux F, Sirac C, Leung N, Fogo AB, McPhail ED, Nasr SH
Kidney Int 2022 Jan;101(1):152-163. Epub 2021 Nov 9 doi: 10.1016/j.kint.2021.10.019. PMID: 34767832

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: 32423387 Free 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 Behçet's disease: an update.

See all (78)

Therapy

Concurrent IgA Nephropathy and Membranous Nephropathy, Is It an Overlap Syndrome?

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

Evaluation of interleukin-18 in children with steroid-sensitive nephrotic syndrome before and after using levamisole.

Youssef DM, Abd Al-Atif AM, El-Khateeb SSH, Elshal AS
Saudi J Kidney Dis Transpl 2018 May-Jun;29(3):591-597. doi: 10.4103/1319-2442.235173. PMID: 29970735

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

See all (51)

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: 32423387 Free 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

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

NPHS3: new clues for understanding idiopathic nephrotic syndrome.

Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750

Kidney disease in Paraguay.

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

See all (63)

Clinical prediction guides

Differences in Immunohistochemical and Ultrastructural Features between Podocytes and Parietal Epithelial Cells (PECs) Are Observed in Developing, Healthy Postnatal, and Pathologically Changed Human Kidneys.

Ogorevc M, Kosovic I, Filipovic N, Bocina I, Juric M, Benzon B, Mardesic S, Vukojevic K, Saraga M, Kablar B, Saraga-Babic M
Int J Mol Sci 2022 Jul 6;23(14) doi: 10.3390/ijms23147501. PMID: 35886848 Free PMC Article

Concurrent IgA Nephropathy and Membranous Nephropathy, Is It an Overlap Syndrome?

Renal effects of growth hormone in health and in kidney disease.

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: 34143299 Free 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: 32423387 Free PMC Article

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

See all (47)