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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): 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.

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Proteinuria

MedGen UID:: 10976
•Concept ID:: C0033687
•: Finding

Increased levels of protein in the urine.

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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.

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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.

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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.

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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.

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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

Diagnosis and treatment of nephrotic syndrome during pregnancy.

Yao T, Yao H, Wang H
Chin Med J (Engl) 1996 Jun;109(6):471-3. PMID: 9206082

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

Timing and predictive factors of developing chronic kidney disease in childhood-onset idiopathic nephrotic syndrome: an Asian experience.

Mohd Idris SS, Nasir A, Nik Ismail NZA, Rostenberghe HAV, Ilias MI
Singapore Med J 2020 Sep;61(9):483-486. Epub 2019 Sep 6 doi: 10.11622/smedj.2019096. PMID: 31489435 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

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

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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

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

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Therapy

Tacrolimus Population Pharmacokinetic Model in Adult Chinese Patients with Nephrotic Syndrome and Dosing Regimen Identification Using Monte Carlo Simulations.

Liao M, Wang M, Zhu X, Zhao L, Zhao M
Ther Drug Monit 2022 Oct 1;44(5):615-624. doi: 10.1097/FTD.0000000000001008. PMID: 36101928

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

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

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

Timing and predictive factors of developing chronic kidney disease in childhood-onset idiopathic nephrotic syndrome: an Asian experience.

Mohd Idris SS, Nasir A, Nik Ismail NZA, Rostenberghe HAV, Ilias MI
Singapore Med J 2020 Sep;61(9):483-486. Epub 2019 Sep 6 doi: 10.11622/smedj.2019096. PMID: 31489435 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

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

Idiopathic mesangiocapillary glomerulonephritis. Comparison of types I and II in children and adults and long-term prognosis.

Cameron JS, Turner DR, Heaton J, Williams DG, Ogg CS, Chantler C, Haycock GB, Hicks J
Am J Med 1983 Feb;74(2):175-92. doi: 10.1016/0002-9343(83)90606-x. PMID: 6337487

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Clinical prediction guides

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

Clinical features of acute kidney injury in patients with nephrotic syndrome and minimal change disease: a retrospective, cross-sectional study.

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: 33443939 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

Timing and predictive factors of developing chronic kidney disease in childhood-onset idiopathic nephrotic syndrome: an Asian experience.

Mohd Idris SS, Nasir A, Nik Ismail NZA, Rostenberghe HAV, Ilias MI
Singapore Med J 2020 Sep;61(9):483-486. Epub 2019 Sep 6 doi: 10.11622/smedj.2019096. PMID: 31489435 Free PMC Article

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

See all (46)