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Familial idiopathic steroid-resistant nephrotic syndrome

MedGen UID:
902527
•Concept ID:
C4273714
•
Disease or Syndrome
Synonyms: familial idiopathic nephrotic syndrome; familial idiopathic steroid-resistant nephrotic syndrome; Genetic SRNS; Genetic steroid-resistant nephrotic syndrome; Hereditary steroid-resistant nephrotic syndrome
SNOMED CT: Familial idiopathic steroid-resistant nephrotic syndrome (718141008); Genetic steroid-resistant nephrotic syndrome (718141008); Hereditary steroid-resistant nephrotic syndrome (718141008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: CRB2, INF2, ANLN, CD2AP, APOL1, NPHS2, WT1, TRPC6, PAX2, NPHS1, MYO1E, LMX1B, ACTN4
 
Monarch Initiative: MONDO:0019006
Orphanet: ORPHA656

Definition

Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible edema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. [from SNOMEDCT_US]

Professional guidelines

PubMed

Nutritional Management of Idiopathic Nephrotic Syndrome in Pediatric Age.
Lella G, Pecoraro L, Benetti E, Arnone OC, Piacentini G, Brugnara M, Pietrobelli A
Med Sci (Basel) 2023 Jul 28;11(3) doi: 10.3390/medsci11030047. PMID: 37606426Free PMC Article
Genetic testing in steroid-resistant nephrotic syndrome: when and how?
Lovric S, Ashraf S, Tan W, Hildebrandt F
Nephrol Dial Transplant 2016 Nov;31(11):1802-1813. Epub 2015 Oct 27 doi: 10.1093/ndt/gfv355. PMID: 26507970Free PMC Article
Nephrotic syndrome in adults: diagnosis and management.
Kodner C
Am Fam Physician 2009 Nov 15;80(10):1129-34. PMID: 19904897

Recent clinical studies

Etiology

Renal and Urinary Conditions: Nephrotic Syndrome.
Abellada AMP
FP Essent 2024 Aug;543:18-23. PMID: 39163011
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?
Becherucci F, Mazzinghi B, Provenzano A, Murer L, Giglio S, Romagnani P
J Nephrol 2016 Aug;29(4):543-50. Epub 2016 May 21 doi: 10.1007/s40620-016-0315-4. PMID: 27209298
Genetic testing in steroid-resistant nephrotic syndrome: when and how?
Lovric S, Ashraf S, Tan W, Hildebrandt F
Nephrol Dial Transplant 2016 Nov;31(11):1802-1813. Epub 2015 Oct 27 doi: 10.1093/ndt/gfv355. PMID: 26507970Free PMC Article
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article

Diagnosis

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
The glomerular permeability factors in idiopathic nephrotic syndrome.
Davin JC
Pediatr Nephrol 2016 Feb;31(2):207-15. Epub 2015 Apr 30 doi: 10.1007/s00467-015-3082-x. PMID: 25925039Free PMC Article
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Nephrotic syndrome in adults: diagnosis and management.
Kodner C
Am Fam Physician 2009 Nov 15;80(10):1129-34. PMID: 19904897
Nephrotic syndrome in childhood.
Eddy AA, Symons JM
Lancet 2003 Aug 23;362(9384):629-39. doi: 10.1016/S0140-6736(03)14184-0. PMID: 12944064

Therapy

Renal and Urinary Conditions: Nephrotic Syndrome.
Abellada AMP
FP Essent 2024 Aug;543:18-23. PMID: 39163011
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?
Becherucci F, Mazzinghi B, Provenzano A, Murer L, Giglio S, Romagnani P
J Nephrol 2016 Aug;29(4):543-50. Epub 2016 May 21 doi: 10.1007/s40620-016-0315-4. PMID: 27209298
NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
Dai Y, Yang H, Gao P, Liu WD
Ren Fail 2014 Oct;36(9):1395-8. Epub 2014 Aug 12 doi: 10.3109/0886022X.2014.947515. PMID: 25112471
Nephrotic syndrome in childhood.
Eddy AA, Symons JM
Lancet 2003 Aug 23;362(9384):629-39. doi: 10.1016/S0140-6736(03)14184-0. PMID: 12944064
Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.
Fuchshuber A, Gribouval O, Ronner V, Kroiss S, Karle S, Brandis M, Hildebrandt F
J Am Soc Nephrol 2001 Feb;12(2):374-378. doi: 10.1681/ASN.V122374. PMID: 11158229

Prognosis

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.
Thomas MM, Abdel-Hamid MS, Mahfouz NN, Ghobrial EE
J Formos Med Assoc 2018 Jan;117(1):48-53. Epub 2017 Apr 3 doi: 10.1016/j.jfma.2017.02.012. PMID: 28385484
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article
Nephrotic syndrome in childhood.
Eddy AA, Symons JM
Lancet 2003 Aug 23;362(9384):629-39. doi: 10.1016/S0140-6736(03)14184-0. PMID: 12944064

Clinical prediction guides

Parental understanding of relapsing idiopathic nephrotic syndrome-Where are the knowledge gaps?
Lo Cao E, Amir N, McKay A, Durkan AM
Acta Paediatr 2020 Jul;109(7):1465-1472. Epub 2019 Dec 12 doi: 10.1111/apa.15111. PMID: 31773812
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
NUP107 mutations in children with steroid-resistant nephrotic syndrome.
Park E, Ahn YH, Kang HG, Miyake N, Tsukaguchi H, Cheong HI
Nephrol Dial Transplant 2017 Jun 1;32(6):1013-1017. doi: 10.1093/ndt/gfw103. PMID: 27190346
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?
Becherucci F, Mazzinghi B, Provenzano A, Murer L, Giglio S, Romagnani P
J Nephrol 2016 Aug;29(4):543-50. Epub 2016 May 21 doi: 10.1007/s40620-016-0315-4. PMID: 27209298
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391

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