Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China
Clinics
;
68(5): 628-631, maio 2013. tab, graf
Artículo
en Inglés
| LILACS
| ID: lil-675765
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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Polimorfismo Genético
/
Enfermedades Raras
/
Péptidos y Proteínas de Señalización Intracelular
/
Proteínas de la Membrana
/
Mutación
/
Síndrome Nefrótico
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Clinics
Asunto de la revista:
Medicina
Año:
2013
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
China
Institución/País de afiliación:
University of Hangzhou School of Medicine/CN
Similares
MEDLINE
...
LILACS
LIS