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Nephrotic syndrome, type 20(NPHS20)

MedGen UID:
1678854
•Concept ID:
C5193011
•
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 20; NPHS20
 
Gene (location): TBC1D8B (Xq22.3)
 
Monarch Initiative: MONDO:0026726
OMIM®: 301028

Definition

Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first decade of life in affected males. The course of the disorder is highly variable: some patients progress to end-stage kidney disease and may die in childhood without renal transplantation, whereas others have milder symptoms and maintain normal renal function. Carrier females may have a milder disorder with proteinuria or may be unaffected. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) and effacement of podocyte foot processes (summary by Dorval et al., 2019 and Kampf et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, 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
Stage 5 chronic kidney disease
MedGen UID:
384526
•Concept ID:
C2316810
•
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Clinical Analysis of Primary Nephrotic Syndrome Complicated by Plastic Bronchitis in Children.
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
Rituximab treatment for difficult-to-treat nephrotic syndrome in children: a multicenter, retrospective study.
Taşdemir M, Canpolat N, Yıldız N, Özçelik G, Benzer M, Saygılı SK, Özkayin EN, Türkkan ÖN, Balat A, Candan C, Çelakıl M, Yavuz S, Akıncı N, Göknar N, Akgün C, Tülpar S, Alpay H, Sever FL, Bilge İ
Turk J Med Sci 2021 Aug 30;51(4):1781-1790. doi: 10.3906/sag-2012-297. PMID: 33581711Free PMC Article
Management of children with congenital nephrotic syndrome: challenging treatment paradigms.
Dufek S, Holtta T, Trautmann A, Ylinen E, Alpay H, Ariceta G, Aufricht C, Bacchetta J, Bakkaloglu SA, Bayazit A, Cicek RY, Dursun I, Duzova A, Ekim M, Iancu D, Jankauskiene A, Klaus G, Paglialonga F, Pasini A, Printza N, Said Conti V, do Sameiro Faria M, Schmitt CP, Stefanidis CJ, Verrina E, Vidal E, Vondrak K, Webb H, Zampetoglou A, Bockenhauer D, Edefonti A, Shroff R
Nephrol Dial Transplant 2019 Aug 1;34(8):1369-1377. doi: 10.1093/ndt/gfy165. PMID: 30215773

Recent clinical studies

Etiology

Interventions for focal segmental glomerulosclerosis in adults.
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
GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid-Sensitive Nephrotic Syndrome.
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article
Hepatitis C virus associated glomerulopathies.
Ozkok A, Yildiz A
World J Gastroenterol 2014 Jun 28;20(24):7544-54. doi: 10.3748/wjg.v20.i24.7544. PMID: 24976695Free PMC Article
Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567

Diagnosis

Membranous nephropathy: Mechanistic insights and therapeutic perspectives.
Hua MR, Zhao YL, Yang JZ, Zou L, Zhao YY, Li X
Int Immunopharmacol 2023 Jul;120:110317. Epub 2023 May 17 doi: 10.1016/j.intimp.2023.110317. PMID: 37207447
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
Nephrinuria and podocytopathies.
Kostovska I, Trajkovska KT, Topuzovska S, Cekovska S, Labudovic D, Kostovski O, Spasovski G
Adv Clin Chem 2022;108:1-36. Epub 2021 Sep 10 doi: 10.1016/bs.acc.2021.08.001. PMID: 35659057
Childhood nephrotic syndrome in tropical Africa: then and now.
Olowu WA, Ademola A, Ajite AB, Saad YM
Paediatr Int Child Health 2017 Nov;37(4):259-268. Epub 2017 Sep 26 doi: 10.1080/20469047.2017.1374002. PMID: 28949280
IgA nephropathy.
Galla JH
Kidney Int 1995 Feb;47(2):377-87. doi: 10.1038/ki.1995.50. PMID: 7723227

Therapy

Interventions for focal segmental glomerulosclerosis in adults.
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
New and Old Anti-CD20 Monoclonal Antibodies for Nephrotic Syndrome. Where We Are?
Basu B, Angeletti A, Islam B, Ghiggeri GM
Front Immunol 2022;13:805697. Epub 2022 Feb 11 doi: 10.3389/fimmu.2022.805697. PMID: 35222385Free PMC Article
GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid-Sensitive Nephrotic Syndrome.
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article
Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567

Prognosis

Nephrinuria and podocytopathies.
Kostovska I, Trajkovska KT, Topuzovska S, Cekovska S, Labudovic D, Kostovski O, Spasovski G
Adv Clin Chem 2022;108:1-36. Epub 2021 Sep 10 doi: 10.1016/bs.acc.2021.08.001. PMID: 35659057
GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid-Sensitive Nephrotic Syndrome.
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article
Childhood nephrotic syndrome in tropical Africa: then and now.
Olowu WA, Ademola A, Ajite AB, Saad YM
Paediatr Int Child Health 2017 Nov;37(4):259-268. Epub 2017 Sep 26 doi: 10.1080/20469047.2017.1374002. PMID: 28949280
IgA nephropathy.
Galla JH
Kidney Int 1995 Feb;47(2):377-87. doi: 10.1038/ki.1995.50. PMID: 7723227

Clinical prediction guides

Clinical and pathological features of omicron variant of SARS-CoV-2-associated kidney injury.
Qi Z, Yuan S, Wei J, Xia S, Huang Y, Chen X, Han Y, Li Z, Xiao Y, Peng F, Fu X, Sun L, Liu H, Zhu X
J Med Virol 2023 Oct;95(10):e29196. doi: 10.1002/jmv.29196. PMID: 37881096
Safety and Efficacy of Sacubitril/Valsartan in Patients With a Failing Systemic Right Ventricle: A Prospective Single-Center Study.
Fusco F, Scognamiglio G, Merola A, Iannuzzi A, Palma M, Grimaldi N, Sarubbi B
Circ Heart Fail 2023 Feb;16(2):e009848. Epub 2022 Dec 2 doi: 10.1161/CIRCHEARTFAILURE.122.009848. PMID: 36458541
GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid-Sensitive Nephrotic Syndrome.
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
Pattern of renal amyloidosis in South Africa.
Hassen M, Bates W, Moosa MR
BMC Nephrol 2019 Nov 9;20(1):406. doi: 10.1186/s12882-019-1601-x. PMID: 31706285Free PMC Article
A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness.
Han SS, Xu YQ, Lu Y, Gu XC, Wang Y
Medicine (Baltimore) 2017 Jun;96(24):e7191. doi: 10.1097/MD.0000000000007191. PMID: 28614261Free PMC Article

Recent systematic reviews

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
Interventions for focal segmental glomerulosclerosis in adults.
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
Interventions for idiopathic steroid-resistant nephrotic syndrome in children.
Liu ID, Willis NS, Craig JC, Hodson EM
Cochrane Database Syst Rev 2019 Nov 21;2019(11) doi: 10.1002/14651858.CD003594.pub6. PMID: 31749142Free PMC Article
Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567
Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.
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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