[Hadju-Cheney syndrome: kidney disturbs in a case report]. / Síndrome de Hadju-Cheney: alterações renais em um relato de caso.
J Bras Nefrol
; 35(2): 165-7, 2013.
Article
em Pt
| MEDLINE
| ID: mdl-23812575
ABSTRACT
Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Glomerulosclerose Segmentar e Focal
/
Síndrome de Hajdu-Cheney
/
Insuficiência Renal
Idioma:
Pt
Ano de publicação:
2013
Tipo de documento:
Article