SINDROME NEFROTICO FAMILIAR: 12 CASOS
La respuesta terapéutica, independientemente del linaje genético, marca la evolución de la enfermedad.
Institución del autor
Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina
Palabras clave
síndrome nefrótico familiar, autonómico recesivo, autonómico dominante, hialinosis focal y segmentaria
Bibliografía del caso clínico
1. A report of the Internacional Study of Kidney Disease in Children. Primary nephrotic síndrome in children: clinical significance of histopathologic variants of minimal change ando f diffuse masangial hypercellularity. Kidney Int 20:765-771, 1981.
2. Winn M, Conlon PJ. Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. Kidney Int 55:1241-1246, 1999.
3. Rana K, Isbel N. Clinical histopathologic and genetic studies in nine families with focal segmental glomerulosclerosis. AJDK 41, 2003.
4. Ruf, R. Fuchshuber A. Identification of the first gene locus(SSNSI for steroid-sensitive nephrotic syndrome on chromosome 2p. J Am Soc Nephrol 14:1897-1900, 2003.
5. Chandra M, Mouradian J. Familial nephrotic syndrome and focal segmental glomerulosclerosis. J Pediatr 98:556-560, 1981.
6. Tsukaguetti H, Yager H. A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. J Am Soc Nephrol 11:1674-1680, 2000.
7. Caridi G, Bertelli R, Scolari F. Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood Kidney Int 64:365, 2003.
8. Ghiggeri GM, Artero M, Perfumo F. permeability plasma factors in nephrotic syndrome: more than one factor, more than one inhibitor Nephrol Dial Transplant 16:882-885, 2001.
9. Ghiggeri GM, Dagnino M, Parodi S. Discordant evolution of nephritic syndrome in mono-and dizigotic twins. Pediatri Nephrol 21:419-422, 2006.
10. Fuchshuber A, Jean G. Mapping a geneSRN1 to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 4:2155-2158, 1995.
11. Ruf R. Lichtenberger A. Patients with mutations in NPHS (podocin do not respond to standart steroid treatment of nephrotic syndrome) J Am Soc Nephrol 15(3):722-732, 2004.
12. Winn M. Not all in the family: mutations of podocin in sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 3(2):577-579, 2002.
13. Rana K, Isbel N. Clinical histopathologic and genetic studies in nine families with focal segmental glomerulosclerosis. AJDK 41:235-239, 2003.
14. Fuchshuber A, Gribouval O. Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. J Am Soc Nephrol 12:374-378, 2001.
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