The heart of children with steroid-resistant nephrotic syndrome: Is it all podocin?

Journal of the American Society of Nephrology

Volumn 17, Issue 1, 2006, Pages 227-231

  Frishberg, Yaacov ^a   Feinstein, Sofia ^a   Rinat, Choni ^a   Becker Cohen, Rachel ^a   Lerer, Israela ^b   Raas Rothschild, Annick ^b   Ferber, Benjamin ^a   Nir, Amiram ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

PODOCIN;

AORTA SUBVALVULAR STENOSIS; ARAB; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; EBSTEIN ANOMALY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FEMALE; GENE MUTATION; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; KIDNEY FAILURE; MALE; NEPHROTIC SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; THORAX RADIOGRAPHY;

EID: 33645452003     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1681/ASN.2005060653     Document Type: Article

References (25)

1. Pollak MR: The genetic basis of FSGS and steroid-resistant nephrosis. Semin Nephrol 23: 141-146, 2003
2. Niaudet P: Genetic forms of nephrotic syndrome. Pediatr Nephrol 19: 1313-1318, 2004
3. Antignac C: Genetic models: Clues for understanding the pathogenesis of idiopathic nephrotic syndrome. J Clin Invest 109: 447-449, 2002
4. Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen N, Holmberg C, Olsen A, Tryggvason K: Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1: 575-582, 1998
5. Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR: Mutations in ACTN4, encoding alpha-actinin-4, causes familial focal segmental glomerulosclerosis. Nat Genet 24: 251-256, 2000
6. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24: 349-354, 2000
7. Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A: Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 13: 400-405, 2002
8. Fournier A, Paget M, Pauli A, Devin P: [Familial nephrotic syndromes. Nephrotic syndrome associated with congenital cardiopathy in 4 sisters]. Pediatric 18: 677-685, 1963
9. Grech V, Chan MKH, Vella C, Attard Montalto S, Rees P, Trompeter RS: Cardiac malformations associated with the congenital nephrotic syndrome. Pediatr Nephrol 14: 1115-1117, 2000
10. Roge CL, Silverman NH, Hart PA, Ray RM: Cardiac structure growth pattern determined by echocardiography. Circulation 57: 285-290, 1978
11. Rosenthal G: Prevalence of congenital heart disease. In: The Science and Practice of Pediatric Cardiology, 2nd Ed., edited by Garson A, Bricker JT, Fisher DJ, Neish SR, Baltimore, Williams & Wilkins, 1998, pp 1089-1093
12. Pradat P, Francannet C, Harris JA, Robert E: The epidemiology of cardiovascular defects, part I: A study based on data from three large registries of congenital malformations. Pediatric Cardiol 24: 195-221, 2003
13. Reamon-Buettner SM, Borlak J: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J Med Genet 41: 684-690, 2004
14. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P: Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11: 379-388, 2002
15. Patrakka J, Kestila M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Mannikko M, Visapaa I, Holmberg C, Rapola J, Tryggvason K, Jalanko H: Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients. Kidney Int 58: 972-980, 2000
16. Sonmez F, Mir S, Berdeli A, Aydogdu A, Altincik A: Triple homozygous podocin mutations in a patient with familial congenital focal segmental glomerulosclerosis associated with cardiac malformation [Abstract]. Nephrol Dial Transplant 20: 226, 2005
17. Putaala H, Sainio K, Sariola H, Tryggvason K: Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene. J Am Soc Nephrol 11: 991-1001, 2000
18. Putaala H, Soininen R, Kilpelainen P, Wartiovaara J, Tryggvason K: The murine nephrin gene is specifically expressed in kidney, brain and pancreas: Inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol genet 10: 1-8, 2001
19. Roselli S, Heidet L, Sich M, Henger A, Kretzler M, Gubler MC, Antignac C: Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol 24: 550-560, 2004
20. Adedoyin O, Frank R, Vento S, Vergara M, Gauthier B, Trachtman H: Cardiac disease in children with primary glomerular disorders-Role of focal segmental glomerulosclerosis. Pediatr Nephrol 19: 408-412, 2004
21. Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Rriz W, Shaw AS, Holzman LB, Mundel P: Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 108: 1621-1629, 2001
22. Huber TB, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, Saleem MA, Walz G, Benzing T: Molecular basis of the functional podocin-nephrin complex: Mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 12: 3397-3405, 2003
23. Gelb BD: Genetic basis of congenital heart disease. Curr Opin Cardiol 19: 110-115, 2004
24. Skinner JR, Manzoor A, Hayes AM, Joffe HS, Martin RP: A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants. Heart 77: 229-233, 1997
25. Ferreira SRC, Moises VA, Tavares A, Pacheco-Silva A: Cardio-vascular effects of successful renal transplantation: A 1-year sequential study of left ventricular morphology and function, and 24-hour blood pressure profile. Transplantation 74: 1580-1587, 2002