Genetics of idiopathic nephrotic syndrome.
Indian J Pediatr
;
2005 Sep; 72(9): 777-83
Artículo
en Inglés
| IMSEAR
| ID: sea-82140
ABSTRACT
Nephrotic syndrome (NS) is a pathological entity characterized by massive proteinuria and has diverse etiology. Although it is one of the most common renal diseases in children, the etiological factors responsible for idiopathic NS/FSGS remain largely unknown. Previous studies had implicated a variety of factors including genetic factors, although NS is generally regarded as a sporadic disease. Familial cases of NS have however been reported periodically, and both autosomal dominant and recessive forms have been identified. Studies of familial NS/FSGS have led to the discovery of several genes that are expressed in podocytes and are associated with proteinuria. These discoveries have shifted the focus from glomerular basement membrane (GBM) to recognition of the central role of podocytes in maintaining glomerular perm selectivity and pathogenesis of NS/FSGS. Associations with various genes (NPHS1, ACTN4, NPHS2, WT-1) and linkage to several chromosomal regions (such as 19q13, 11q21, 11q24) have been reported in patients with familial NS/FSGS.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Humanos
/
Niño
/
Podocitos
/
Glomérulos Renales
/
Síndrome Nefrótico
Tipo de estudio:
Estudio pronóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2005
Tipo del documento:
Artículo
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