Recent advances in congenital nephrotic syndrome

Current Opinion in Pediatrics

Volumn 16, Issue 2, 2004, Pages 165-170

  Papez, Karen E ^a   Smoyer, William E ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

Nephrin; Podocin; Transplantation

Indexed keywords

NEPHRIN; PODOCIN;

CONGENITAL NEPHROTIC SYNDROME; DIAGNOSTIC APPROACH ROUTE; DISEASE CLASSIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GRAFT SURVIVAL; HEMODIALYSIS; HUMAN; KIDNEY TRANSPLANTATION; LONG TERM CARE; MUTATIONAL ANALYSIS; NEPHRECTOMY; OUTCOMES RESEARCH; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REVIEW; TREATMENT INDICATION; UNINEPHRECTOMY;

CHILD; HUMANS; NEPHRECTOMY; NEPHROTIC SYNDROME;

EID: 1642380492     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200404000-00009     Document Type: Review

References (29)

1. Kelsch RC, Sedman AB: Nephrotic syndrome. Pediatr Rev 1993, 14:30-38. This articles provides a thorough review of the topic.
2. Holmberg C, Hannu J, Tryggvason K, et al.: Congenital nephrotic syndrome. In Pediatric Nephrology, 4th ed. Edited by Barratt TM, Avner ED, Harmon WE. Baltimore: Lippincott Williams & Wilkins; 1999:765-778.
3. Mauch TJ, Vernier RL, Burke BA, et al.: Nephrotic syndrome in the first year of life. In Pediatric Nephrology, 3rd ed. Edited by Holliday MA, Barratt TM, Avner ED. Baltimore: Williams & Wilkins; 1994:788-802. This is a thorough review of the topic.
4. Khoshnoodi J, Tryggvason K: Congenital nephrotic syndromes. Curr Opin Genet Dev 2001, 11:322-327.
5. Penaflor G: Congenital nephrotic syndrome. Pediatr Rev 2001, 22:32.
6. Frishberg Y, Rinat C, Feinstein S, et al.: Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome. Pediatr Nephrol 2003, 18:273-275. This is an interesting challenge to previously held concept of causes of CNS that should prompt clinicians to consider genetic causes of CNS in patients who fail to respond to standard therapy.
7. Koziell A, Grech V, Hussain S, et al.: Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002, 11:379-388. This is a concise yet thorough review of the literature since the identification of nephrin and podocin mutations, with an insightful discussion of the clinical correlation of the phenotypic findings with individual mutations. Discussing the novel "triallelic hit" pattern of inheritance, introduces an intriguing change to the conventional paradigm regarding inheritance patterns. Keeping abreast of innovative findings like this will likely revolutionize our understanding of human genetics.
8. Kestila M, Lenkkeri U, Mannikko M, et al.: Positionally cloned gene for a novel glomerular protein nephrin is mutated in congenital nephrotic syndrome. Mol Cell 1998, 1:575-582.
9. Boute N, Gribouval O, Roselli S, et al.: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000, 24:349-354.
10. Gigante M, Monno F, Roberto R, et al.: Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. J Nephrol 2002, 15:696-702.
11. Shih NY, Li J, Karpitskii V, et al.: Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 1999, 286:312-315.
12. Shih N Y, Li J, Cotran R, et al.: CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain. Am J Pathol 2001, 159:2303-2308.
13. Sellin L, Huber TB, Gerke P, et al.: NEPH1 defines a novel family of podocin interacting proteins. FASEB J 2003, 17:115-117.
14. Ihalmo P, Palmen T, Ahola H, et al.: Filtrin is a novel member of nephrin-like proteins. Biochem Biophys Res Commun 2003, 300:364-370.
15. Ahola H, Heikkila E, Astrom E, et al.: A novel protein, densin, expressed by glomerular podocytes. J Am Soc Nephrol 2003, 14:1731-1737.
16. Altay C, Oner C, Oner R, et al.: Genotype-phenotype analysis in HbS-beta-thalassemia. Hum Hered 1997, 47:161-164.
17. Kerkhoffs JL, Harteveld CL, Wijermans P, et al.: Very mild pathology in a case of Hb S/beta0-thalassemia in combination with a homozygosity for the alpha-thalassemia 3.7 kb deletion. Hemoglobin 2000, 24:259-263.
18. Katsanis N, Ansley SJ, Badano JL, et al.: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001, 293:2256-2259.
19. Pei Y, Paterson AD, Wang KR, et al.: Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 2001, 68:355-363.
20. Eremina V, Sood M, Haigh J, et al.: Glomerular-specific alterations of VEGF-A expression lead to distinct congenital and acquired renal diseases. J Clin Invest 2003, 111:707-716. This is a thorough investigation of the spectrum of phenotype found in the range of VEGF-A mutations. An insightful choice of expression patterns allowed study of an otherwise fatal mutation, lending insight into a powerful developmental pathway.
21. Gunes T, Akcakus M, Dusunsel R, et al.: Transient proteinuria in an infant born to a mother with HELLP syndrome. Eur J Pediatr 2002, 161:614-615.
22. Luttun A, Carmeliet P: Soluble VEGF receptor Flt1: the elusive preeclampsia factor discovered? J Clin Invest 2003, 111:600-602.
23. Rivera A, Meleg-Smith S, Yosipiv I, et al.: Diagnosis of congenital nephrotic syndrome: a clinical and a pathologic challenge. Pediatr Pathol Mol Med 2003, 22:105-116.
24. Kestila M, Jarvela I: Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1). Prenat Diagn 2003, 23:323-324.
25. Kovacevic L, Reid CJD, Rigden SPA: Management of congenital nephrotic syndrome. Pediatr Nephrol 2003, 18:426-430. This article provides a clinically effective alternative to routine bilateral nephrectomies in patients with CNS.
26. Haws RM, Weinberg AG, Baum M: Spontaneous remission of congenital nephrotic syndrome: a case report and review of the literature. Pediatr Nephrol 1992, 6:82-84.
27. Vats AN, Costello B, Mauer M: Glomerular structural factors in progression of congenital nephrotic syndrome. Pediatr Nephrol 2003, 18:234-240.
28. Laine J, Jalanko H, Holthofer H, et al.: Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. Kidney Int 1993, 44:867-874.
29. Patrakka J, Ruotsalainen V, Reponen P, et al.: Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin. Transplantation 2002, 73:394-403. This is a relatively large study population for a limited subset of patients with CNF after transplantation. There is an interesting correlation of mutations with posttransplantation recurrence of nephrotic syndrome and development of antinephrin antibodies.