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Nephrotic syndrome, type 21(NPHS21)

MedGen UID:
1684676
•Concept ID:
C5231498
•
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 21; NPHS21
 
Gene (location): AVIL (12q14.1)
 
Monarch Initiative: MONDO:0032826
OMIM®: 618594

Definition

Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life. Laboratory studies show proteinuria and renal biopsy shows diffuse mesangial sclerosis. The disorder is rapidly progressive and ultimately results in end-stage renal disease. Some patients with variable extrarenal manifestations, such as microcephaly or impaired intellectual development, have been reported, but it is not clear whether these features are consistently part of the phenotype (summary by Rao et al., 2017). (Rao et al. (2017) designated the disorder NPHS25.) For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

Clinical features

From HPO
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.
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

Professional guidelines

PubMed

ANGPTL3 impacts proteinuria and hyperlipidemia in primary nephrotic syndrome.
Zhong F, Liu S, Li Y, Li G, Liu M, Wang J, Cui W, Suo Y, Gao X
Lipids Health Dis 2022 Apr 10;21(1):38. doi: 10.1186/s12944-022-01632-y. PMID: 35399079Free PMC Article
The treatment of idiopathic focal segmental glomerulosclerosis in adults.
Hogan J, Radhakrishnan J
Adv Chronic Kidney Dis 2014 Sep;21(5):434-41. doi: 10.1053/j.ackd.2014.03.016. PMID: 25168833
Treatment of FSGS in Children.
Sethna CB, Gipson DS
Adv Chronic Kidney Dis 2014 Mar;21(2):194-9. doi: 10.1053/j.ackd.2014.01.010. PMID: 24602468

Recent clinical studies

Etiology

Rationale and design of the Japanese Biomarkers in Nephrotic Syndrome (J-MARINE) study.
Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
ANGPTL3 impacts proteinuria and hyperlipidemia in primary nephrotic syndrome.
Zhong F, Liu S, Li Y, Li G, Liu M, Wang J, Cui W, Suo Y, Gao X
Lipids Health Dis 2022 Apr 10;21(1):38. doi: 10.1186/s12944-022-01632-y. PMID: 35399079Free PMC Article
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
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy.
Sethi S, Madden BJ, Debiec H, Charlesworth MC, Gross L, Ravindran A, Hummel AM, Specks U, Fervenza FC, Ronco P
J Am Soc Nephrol 2019 Jun;30(6):1123-1136. Epub 2019 May 6 doi: 10.1681/ASN.2018080852. PMID: 31061139Free PMC Article
Treatment of FSGS in Children.
Sethna CB, Gipson DS
Adv Chronic Kidney Dis 2014 Mar;21(2):194-9. doi: 10.1053/j.ackd.2014.01.010. PMID: 24602468

Diagnosis

Rationale and design of the Japanese Biomarkers in Nephrotic Syndrome (J-MARINE) study.
Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
Changes in spectrum of biopsy-proven kidney diseases within decade: an analysis based on 10 199 cases from South China.
Chen XJ, Huang Y, Yuan S, Han Y, Li Z, Xu X, Fu X, Peng F, Zhang S, Xiang L, Shi K, Cui X, Zhang Z, Wei J, Xia S, Xiao Y, Sun L, Liu H, Zhu X
Postgrad Med J 2023 Dec 21;100(1179):20-27. doi: 10.1093/postmj/qgad094. PMID: 37827532
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
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
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

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
Unilateral nephrectomy for young infants with congenital nephrotic syndrome of the Finnish type.
Murakoshi M, Kamei K, Ogura M, Sato M, Nada T, Suzuki R, Kamae C, Nishi K, Kanamori T, Nagano C, Nozu K, Nakanishi K, Iijima K
Clin Exp Nephrol 2022 Feb;26(2):162-169. Epub 2021 Sep 28 doi: 10.1007/s10157-021-02141-5. PMID: 34581898
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
The treatment of idiopathic focal segmental glomerulosclerosis in adults.
Hogan J, Radhakrishnan J
Adv Chronic Kidney Dis 2014 Sep;21(5):434-41. doi: 10.1053/j.ackd.2014.03.016. PMID: 25168833
Treatment of FSGS in Children.
Sethna CB, Gipson DS
Adv Chronic Kidney Dis 2014 Mar;21(2):194-9. doi: 10.1053/j.ackd.2014.01.010. PMID: 24602468

Prognosis

Rationale and design of the Japanese Biomarkers in Nephrotic Syndrome (J-MARINE) study.
Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
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
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy.
Sethi S, Madden BJ, Debiec H, Charlesworth MC, Gross L, Ravindran A, Hummel AM, Specks U, Fervenza FC, Ronco P
J Am Soc Nephrol 2019 Jun;30(6):1123-1136. Epub 2019 May 6 doi: 10.1681/ASN.2018080852. PMID: 31061139Free 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
Treatment of FSGS in Children.
Sethna CB, Gipson DS
Adv Chronic Kidney Dis 2014 Mar;21(2):194-9. doi: 10.1053/j.ackd.2014.01.010. PMID: 24602468

Clinical prediction guides

Rationale and design of the Japanese Biomarkers in Nephrotic Syndrome (J-MARINE) study.
Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
Acute kidney injury in patients with idiopathic membranous nephropathy: influencing factors and prognosis.
Li Z, Weng M, Lin L, Chen Y, Lin J, Cui J, Jiang D, Fu B, Li G, Chen C, Xu Y, Wan J
Ren Fail 2023 Dec;45(1):2194451. doi: 10.1080/0886022X.2023.2194451. PMID: 36994793Free PMC Article
ANGPTL3 impacts proteinuria and hyperlipidemia in primary nephrotic syndrome.
Zhong F, Liu S, Li Y, Li G, Liu M, Wang J, Cui W, Suo Y, Gao X
Lipids Health Dis 2022 Apr 10;21(1):38. doi: 10.1186/s12944-022-01632-y. PMID: 35399079Free 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
Treatment of FSGS in Children.
Sethna CB, Gipson DS
Adv Chronic Kidney Dis 2014 Mar;21(2):194-9. doi: 10.1053/j.ackd.2014.01.010. PMID: 24602468

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
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

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