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Nephrotic syndrome, type 12(NPHS12)

MedGen UID:
904365
•Concept ID:
C4225166
•
Disease or Syndrome
Synonym: NPHS12
 
Gene (location): NUP93 (16q13)
 
Monarch Initiative: MONDO:0014817
OMIM®: 616892

Definition

Nephrotic syndrome type 12 (NPHS12) is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by Braun et al., 2016). 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
Hematuria
MedGen UID:
5488
•Concept ID:
C0018965
•
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
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Diffuse mesangial sclerosis
MedGen UID:
78698
•Concept ID:
C0268747
•
Disease or Syndrome
Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
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.
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Professional guidelines

PubMed

Indications for renal biopsy in patients with diabetes. Joint position statement of the Italian Society of Nephrology and the Italian Diabetes Society.
Di Paolo S, Fiorentino M, De Nicola L, Reboldi G, Gesualdo L, Barutta F, Natali A, Penno G, Fioretto P, Pugliese G; Italian Society of Nephrology and the Italian Diabetes Society
Nutr Metab Cardiovasc Dis 2020 Nov 27;30(12):2123-2132. Epub 2020 Sep 19 doi: 10.1016/j.numecd.2020.09.013. PMID: 33239162
Congenital nephrotic syndrome: is early aggressive treatment needed? Yes.
Hölttä T, Jalanko H
Pediatr Nephrol 2020 Oct;35(10):1985-1990. Epub 2020 May 6 doi: 10.1007/s00467-020-04578-4. PMID: 32377865Free PMC Article
Infusion reactions associated with rituximab treatment for childhood-onset complicated nephrotic syndrome.
Kamei K, Ogura M, Sato M, Ito S, Ishikura K
Pediatr Nephrol 2018 Jun;33(6):1013-1018. Epub 2018 Feb 9 doi: 10.1007/s00467-018-3900-z. PMID: 29426974

Recent clinical studies

Etiology

Protocadherin 7-Associated Membranous Nephropathy.
Sethi S, Madden B, Debiec H, Morelle J, Charlesworth MC, Gross L, Negron V, Buob D, Chaudhry S, Jadoul M, Fervenza FC, Ronco P
J Am Soc Nephrol 2021 May 3;32(5):1249-1261. Epub 2021 Apr 8 doi: 10.1681/ASN.2020081165. PMID: 33833079Free PMC Article
Congenital nephrotic syndrome: is early aggressive treatment needed? Yes.
Hölttä T, Jalanko H
Pediatr Nephrol 2020 Oct;35(10):1985-1990. Epub 2020 May 6 doi: 10.1007/s00467-020-04578-4. PMID: 32377865Free PMC Article
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.
Holmberg C, Jalanko H
Pediatr Nephrol 2014 Dec;29(12):2309-17. Epub 2014 Mar 29 doi: 10.1007/s00467-014-2781-z. PMID: 24682440Free PMC Article
Hypercoagulability and nephrotic syndrome.
Gigante A, Barbano B, Sardo L, Martina P, Gasperini ML, Labbadia R, Liberatori M, Amoroso A, Cianci R
Curr Vasc Pharmacol 2014 May;12(3):512-7. doi: 10.2174/157016111203140518172048. PMID: 22724465

Diagnosis

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
Congenital nephrotic syndrome: is early aggressive treatment needed? Yes.
Hölttä T, Jalanko H
Pediatr Nephrol 2020 Oct;35(10):1985-1990. Epub 2020 May 6 doi: 10.1007/s00467-020-04578-4. PMID: 32377865Free PMC Article
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
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

Therapy

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Congenital nephrotic syndrome: is early aggressive treatment needed? Yes.
Hölttä T, Jalanko H
Pediatr Nephrol 2020 Oct;35(10):1985-1990. Epub 2020 May 6 doi: 10.1007/s00467-020-04578-4. PMID: 32377865Free 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
Hypercoagulability and nephrotic syndrome.
Gigante A, Barbano B, Sardo L, Martina P, Gasperini ML, Labbadia R, Liberatori M, Amoroso A, Cianci R
Curr Vasc Pharmacol 2014 May;12(3):512-7. doi: 10.2174/157016111203140518172048. PMID: 22724465
Hepatitis C and renal disease: epidemiology, diagnosis, pathogenesis and therapy.
Morales JM, Kamar N, Rostaing L
Contrib Nephrol 2012;176:10-23. Epub 2012 Jan 30 doi: 10.1159/000333772. PMID: 22310777

Prognosis

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
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
Hypercoagulability and nephrotic syndrome.
Gigante A, Barbano B, Sardo L, Martina P, Gasperini ML, Labbadia R, Liberatori M, Amoroso A, Cianci R
Curr Vasc Pharmacol 2014 May;12(3):512-7. doi: 10.2174/157016111203140518172048. PMID: 22724465

Clinical prediction guides

Machine learning model to estimate probability of remission in patients with idiopathic membranous nephropathy.
Duo L, Chen L, Zuo Y, Guo J, He M, Zhao H, Kang Y, Tang W
Int Immunopharmacol 2023 Dec;125(Pt A):111126. Epub 2023 Oct 30 doi: 10.1016/j.intimp.2023.111126. PMID: 37913570
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
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
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
Hypercoagulability and nephrotic syndrome.
Gigante A, Barbano B, Sardo L, Martina P, Gasperini ML, Labbadia R, Liberatori M, Amoroso A, Cianci R
Curr Vasc Pharmacol 2014 May;12(3):512-7. doi: 10.2174/157016111203140518172048. PMID: 22724465

Recent systematic reviews

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
Bevacizumab increases risk for severe proteinuria in cancer patients.
Wu S, Kim C, Baer L, Zhu X
J Am Soc Nephrol 2010 Aug;21(8):1381-9. Epub 2010 Jun 10 doi: 10.1681/ASN.2010020167. PMID: 20538785Free PMC Article
Non-corticosteroid treatment for nephrotic syndrome in children.
Durkan A, Hodson E, Willis N, Craig J
Cochrane Database Syst Rev 2001;(4):CD002290. doi: 10.1002/14651858.CD002290. PMID: 11687155
Immunosuppressive agents in childhood nephrotic syndrome: a meta-analysis of randomized controlled trials.
Durkan AM, Hodson EM, Willis NS, Craig JC
Kidney Int 2001 May;59(5):1919-27. doi: 10.1046/j.1523-1755.2001.0590051919.x. PMID: 11318964

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