A Case of von Gierke Disease
Journal of the Korean Pediatric Society
; : 1756-1756, 1997.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-138871
Biblioteca responsável:
WPRO
ABSTRACT
von Gierke disease (type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia, and platelets dysfunction. We experienced a case of von Gierke disease in 6 month-old boy with doll face, hepatomegaly, fasting hypoglycemia, acidosis, anemia, hyperlipidemia, hyperuricemia, and acetonuria. Diagnosis was confirmed by light- and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Cornstarch dietary therapy for him had favorable responses showing improvement of hypoglycemia, other metabolic derangements, and regression of hepatomegaly.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Amido
/
Acidose
/
Biópsia
/
Doença de Depósito de Glicogênio Tipo I
/
Glucose-6-Fosfatase
/
Hepatócitos
/
Hiperuricemia
/
Diagnóstico
/
Eritrócitos
/
Glicogênio
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1997
Tipo de documento:
Artigo