NPHS2 mutations.
Indian J Pediatr
;
2008 Feb; 75(2): 135-8
Artigo
em Inglês
| IMSEAR
| ID: sea-83289
ABSTRACT
OBJECTIVE:
To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS).METHODS:
Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing.RESULTS:
NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations.CONCLUSION:
NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Prognóstico
/
Humanos
/
Marcadores Genéticos
/
Criança
/
Pré-Escolar
/
Reação em Cadeia da Polimerase
/
Prevalência
/
Estudos Transversais
/
Mutação da Fase de Leitura
/
Polimorfismo Conformacional de Fita Simples
Tipo de estudo:
Estudo observacional
/
Estudo de prevalência
/
Estudo prognóstico
/
Fatores de risco
País/Região como assunto:
África
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2008
Tipo de documento:
Artigo
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