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Nephrotic Syndrome - CD2AP Associated

MedGen UID:
884831
•Concept ID:
C4054396
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the CD2AP gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - CD2AP Associated

Professional guidelines

PubMed

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

Cyclosporine A induced histological changes of Cathepsin L and CD2AP expression in renal glomeruli and tubules.
Sugimoto K, Miyazawa T, Enya T, Miyazaki K, Okada M, Takemura T
Clin Exp Nephrol 2017 Feb;21(1):83-91. Epub 2016 Mar 14 doi: 10.1007/s10157-016-1257-9. PMID: 26975192
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G, Machuca E, Nevo F, Gribouval O, Lepage D, Antignac C
Pediatr Nephrol 2010 Mar;25(3):445-51. Epub 2009 Dec 3 doi: 10.1007/s00467-009-1372-x. PMID: 19956976
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).
Gigante M, Pontrelli P, Montemurno E, Roca L, Aucella F, Penza R, Caridi G, Ranieri E, Ghiggeri GM, Gesualdo L
Nephrol Dial Transplant 2009 Jun;24(6):1858-64. Epub 2009 Jan 7 doi: 10.1093/ndt/gfn712. PMID: 19131354
TRPC6 and FSGS: the latest TRP channelopathy.
Mukerji N, Damodaran TV, Winn MP
Biochim Biophys Acta 2007 Aug;1772(8):859-68. Epub 2007 Mar 20 doi: 10.1016/j.bbadis.2007.03.005. PMID: 17459670
Genetic basis of nephrotic syndrome--review.
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799

Diagnosis

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: 35920919
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.
Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI
Exp Mol Med 2017 Dec 15;49(12):e414. doi: 10.1038/emm.2017.227. PMID: 29244787Free 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
Cyclosporine A induced histological changes of Cathepsin L and CD2AP expression in renal glomeruli and tubules.
Sugimoto K, Miyazawa T, Enya T, Miyazaki K, Okada M, Takemura T
Clin Exp Nephrol 2017 Feb;21(1):83-91. Epub 2016 Mar 14 doi: 10.1007/s10157-016-1257-9. PMID: 26975192

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: 35920919
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
Cyclosporine A induced histological changes of Cathepsin L and CD2AP expression in renal glomeruli and tubules.
Sugimoto K, Miyazawa T, Enya T, Miyazaki K, Okada M, Takemura T
Clin Exp Nephrol 2017 Feb;21(1):83-91. Epub 2016 Mar 14 doi: 10.1007/s10157-016-1257-9. PMID: 26975192
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
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G, Machuca E, Nevo F, Gribouval O, Lepage D, Antignac C
Pediatr Nephrol 2010 Mar;25(3):445-51. Epub 2009 Dec 3 doi: 10.1007/s00467-009-1372-x. PMID: 19956976

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: 35920919
Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children.
Kyrieleis HA, Löwik MM, Pronk I, Cruysberg HR, Kremer JA, Oyen WJ, van den Heuvel BL, Wetzels JF, Levtchenko EN
Clin J Am Soc Nephrol 2009 Oct;4(10):1593-600. Epub 2009 Sep 24 doi: 10.2215/CJN.05691108. PMID: 19808243Free PMC Article
TRPC6 and FSGS: the latest TRP channelopathy.
Mukerji N, Damodaran TV, Winn MP
Biochim Biophys Acta 2007 Aug;1772(8):859-68. Epub 2007 Mar 20 doi: 10.1016/j.bbadis.2007.03.005. PMID: 17459670
Genetic basis of nephrotic syndrome--review.
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799

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: 35920919
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
Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?
Lahdenkari AT, Suvanto M, Kajantie E, Koskimies O, Kestilä M, Jalanko H
Pediatr Nephrol 2005 Aug;20(8):1073-80. Epub 2005 Jun 21 doi: 10.1007/s00467-005-1965-y. PMID: 15968559
CD2AP is expressed with nephrin in developing podocytes and is found widely in mature kidney and elsewhere.
Li C, Ruotsalainen V, Tryggvason K, Shaw AS, Miner JH
Am J Physiol Renal Physiol 2000 Oct;279(4):F785-92. doi: 10.1152/ajprenal.2000.279.4.F785. PMID: 10997929

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