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Nephrotic Syndrome - INF2 Associated

MedGen UID:
885505
•Concept ID:
C4054383
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the INF2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - INF2 Associated

Professional guidelines

PubMed

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F; PodoNet Consortium
Kidney Int 2013 Jul;84(1):206-13. Epub 2013 Mar 20 doi: 10.1038/ki.2013.93. PMID: 23515051
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article

Recent clinical studies

Etiology

Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.
Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K
Kidney360 2022 Aug 25;3(8):1384-1393. Epub 2022 May 24 doi: 10.34067/KID.0000812022. PMID: 36176665Free PMC Article
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free PMC Article
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
Watanabe Y, Fujinaga S, Sakuraya K, Ikeda H, Nozu K
Clin Exp Nephrol 2022 May;26(5):453-459. Epub 2022 Feb 3 doi: 10.1007/s10157-021-02174-w. PMID: 35113255
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J
Pediatr Nephrol 2018 Aug;33(8):1347-1363. Epub 2018 Jun 4 doi: 10.1007/s00467-018-3950-2. PMID: 29869118
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article

Diagnosis

Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.
Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K
Kidney360 2022 Aug 25;3(8):1384-1393. Epub 2022 May 24 doi: 10.34067/KID.0000812022. PMID: 36176665Free PMC Article
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
Watanabe Y, Fujinaga S, Sakuraya K, Ikeda H, Nozu K
Clin Exp Nephrol 2022 May;26(5):453-459. Epub 2022 Feb 3 doi: 10.1007/s10157-021-02174-w. PMID: 35113255
Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation.
Sinha R, Maiti R, Das D, Mandal K
Indian Pediatr 2020 Aug 15;57(8):764. PMID: 32844773
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J
Pediatr Nephrol 2018 Aug;33(8):1347-1363. Epub 2018 Jun 4 doi: 10.1007/s00467-018-3950-2. PMID: 29869118
Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.
Tamura H, Nakazato H, Kuraoka S, Yoneda K, Takahashi W, Endo F
Nephrology (Carlton) 2016 Jun;21(6):467-75. doi: 10.1111/nep.12627. PMID: 26383224

Therapy

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free PMC Article
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.
Suvanto M, Patrakka J, Jahnukainen T, Sjöström PM, Nuutinen M, Arikoski P, Kataja J, Kestilä M, Jalanko H
Clin Exp Nephrol 2017 Aug;21(4):677-684. Epub 2016 Aug 29 doi: 10.1007/s10157-016-1331-3. PMID: 27573339
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article

Prognosis

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free PMC Article
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
Watanabe Y, Fujinaga S, Sakuraya K, Ikeda H, Nozu K
Clin Exp Nephrol 2022 May;26(5):453-459. Epub 2022 Feb 3 doi: 10.1007/s10157-021-02174-w. PMID: 35113255
The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia.
Almokali K, Alyami A, Ajeebi A, Almutairi T, Aldriwesh M
Saudi J Kidney Dis Transpl 2021 May-Jun;32(3):798-805. doi: 10.4103/1319-2442.336776. PMID: 35102923
Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.
Tamura H, Nakazato H, Kuraoka S, Yoneda K, Takahashi W, Endo F
Nephrology (Carlton) 2016 Jun;21(6):467-75. doi: 10.1111/nep.12627. PMID: 26383224
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F; PodoNet Consortium
Kidney Int 2013 Jul;84(1):206-13. Epub 2013 Mar 20 doi: 10.1038/ki.2013.93. PMID: 23515051

Clinical prediction guides

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free PMC Article
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
Watanabe Y, Fujinaga S, Sakuraya K, Ikeda H, Nozu K
Clin Exp Nephrol 2022 May;26(5):453-459. Epub 2022 Feb 3 doi: 10.1007/s10157-021-02174-w. PMID: 35113255
Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.
Tamura H, Nakazato H, Kuraoka S, Yoneda K, Takahashi W, Endo F
Nephrology (Carlton) 2016 Jun;21(6):467-75. doi: 10.1111/nep.12627. PMID: 26383224
Podocyte proteins in congenital and minimal change nephrotic syndrome.
Suvanto M, Jahnukainen T, Kestilä M, Jalanko H
Clin Exp Nephrol 2015 Jun;19(3):481-8. Epub 2014 Aug 14 doi: 10.1007/s10157-014-1020-z. PMID: 25117488
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article

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