Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China
Clinics
; 68(5): 628-631, maio 2013. tab, graf
Artigo
em Inglês
| LILACS
| ID: lil-675765
Biblioteca responsável:
BR1.1
ABSTRACT
OBJECTIVES:
Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings.METHODS:
Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients.RESULTS:
All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases.CONCLUSIONS:
The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis. .
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Polimorfismo Genético
/
Doenças Raras
/
Peptídeos e Proteínas de Sinalização Intracelular
/
Proteínas de Membrana
/
Mutação
/
Síndrome Nefrótica
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Clinics
Assunto da revista:
Medicina
Ano de publicação:
2013
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
China
Instituição/País de afiliação:
University of Hangzhou School of Medicine/CN