Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome

Pediatric Nephrology

Volumn 18, Issue 3, 2003, Pages 273-275

  Frishberg, Yaacov ^a   Rinat, Choni ^a   Feinstein, Sofia ^a   Becker Cohen, Rachel ^a   Megged, Orli ^a   Schlesinger, Yechiel ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Congenital nephrotic syndrome; Cytomegalovirus infection; Gancyclovir; Infants; NPHS2 gene; Podocin

Indexed keywords

GANCICLOVIR; GENE PRODUCT; PODOCIN; UNCLASSIFIED DRUG;

CASE REPORT; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; CYTOMEGALOVIRUS INFECTION; DISEASE ASSOCIATION; ECHOGRAPHY; FEMALE; GENETIC CODE; HISTOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; KIDNEY BIOPSY; KIDNEY TRANSPLANTATION; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW; URINALYSIS;

EID: 0037484344     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-003-1079-3     Document Type: Review

References (14)

1. Holmberg C, Jalanko H, Tryggvason K, Rapola J (1999) Congenital nephrotic syndrome. In: Barratt TM, Avner ED, Harmon WE (eds) Pediatric nephrology, 4th edn. Lippincott Williams and Wilkins, Philadelphia, pp 765-777
2. Bergstein JM (2000) Congenital nephrotic syndrome. In: Behrman RE, Kliegman RM, Jenson HB (eds) Nelson textbook of pediatrics, 16th edn. Saunders, Philadelphia, pp 1595-1596
3. Berry PL, Brewer ED (1994) Glomerulonephritis and nephrotic syndrome. In: Oski FA, DeAngelis CD, Feigin RD, McMillan JA, Warshaw JB (eds) Principles and practice of pediatrics, 2nd edn. Lippincott, pp 1800-1801
4. Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell 1:575-582
5. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349-354
6. Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A (2002) 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
7. Worthen HG, Vernier RL, Good RA (1959) Infantile nephrosis. Clinical, biochemical, and morphologic studies of the syndrome. Am J Dis Child 98:731-748
8. Batisky DL, Roy S, Gaber LW (1993) Congenital nephrosis and neonatal cytomegalovirus infection: a clinical association. Pediatr Nephrol 7:741-743
9. Giani M, Edefonti A, Damiani B, Marra G, Colombo D, Banfi G, Rivolta E, Strom EH, Mihatch M (1996) Nephrotic syndrome in a mother and her infant: relationship with cytomegalovirus infection. Pediatr Nephrol 10:73-75
10. Evans DGR, Lyon AJ (1991) Fatal congenital cytomegalovirus infection acquired by an intra-uterine transfusion. Eur J Pediatr 150:780-781
11. Papaioannou AC, Asrow GG, Schuckmell NH (1961) Nephrotic syndrome in early infancy as a manifestation of congenital syphilis. Pediatrics 27:636-641
12. Shahin B, Papadopoulou ZL, Jenis EH (1974) Congenital nephrotic syndrome associated with congenital toxoplasmosis. J Pediatr 85:366-370
13. Stagno S (2000) Cytomegalovirus. In: Behrman RE, Kliegman RM, Jenson HB (eds) Nelson textbook of pediatrics, 16th edn. Saunders, Philadelphia, pp 981-983
14. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P (2002) 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