Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 329-333, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-245403
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease.</p><p><b>METHOD</b>The clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing.</p><p><b>RESULT</b>All the six patients presented with low molecular weight proteinuria and hypercalciuria, including 3/6 hematuria, 4/6 nephrocalcinosis, 3/6 hypophosphatemia, 1/6 rickets. Six mutations of the CLCN5 gene were revealed, including L594fsX595, R637X, R467X, IVS4-2A > G, S244L and V505G. The mutation L594fsX595, IVS4-2A > G and V505G was never reported before.</p><p><b>CONCLUSION</b>Low molecular weight proteinuria and hypercalciuria were the main clinical features of the six Chinese boys with Dent's disease. Dent's disease could be associated with a Bartter-like syndrome, which make the gene diagnosis more important.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Proteinúria
/
Canais de Cloreto
/
Diagnóstico
/
Hipercalciúria
/
Doença de Dent
/
Genética
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2010
Tipo de documento:
Artigo
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