A Case of Fanconi-Bickel Syndrome with Mild Clinical Signs / 대한내과학회지
Korean Journal of Medicine
;
: 210-213, 2013.
Artigo
em Coreano
| WPRIM
| ID: wpr-63514
ABSTRACT
Fanconi-Bickel syndrome is a rare autosomal recessive disorder caused by a mutation in the facilitative glucose transporter 2 gene (GLUT2 or SLC2A2 gene) that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. Mutation of this gene leads to defective carbohydrate metabolism, hepatomegaly, glucose intolerance, proximal renal tubular dysfunction, and hypophosphatemic rickets. We report a case of Fanconi-Bickel syndrome in an 18-year-old man who presented due to renal glycosuria; a mutation was identified in the GLUT2 gene (c.482C > A + c.1556G > A). To the best of our knowledge, unlike previous reports of Fanconi-Bickel syndrome, this case was relatively unusual in that it caused only mild clinical signs.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Intolerância à Glucose
/
Enterócitos
/
Hepatócitos
/
Proteínas Facilitadoras de Transporte de Glucose
/
Transportador de Glucose Tipo 2
/
Metabolismo dos Carboidratos
/
Raquitismo Hipofosfatêmico Familiar
/
Síndrome de Fanconi
/
Hepatomegalia
Tipo de estudo:
Estudo diagnóstico
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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