A case of gout with glycogen storage disease type Ia / 대한내과학회지
Korean Journal of Medicine
; : 421-425, 2002.
Article
em Ko
| WPRIM
| ID: wpr-11152
Biblioteca responsável:
WPRO
ABSTRACT
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder that has defects in glucose-6-phosphatase (G6Pase) in liver, kidney and intestinal mucosa. The defect leads to inadequate conversion of glucose-6-phospate to glucose in the liver and thus makes affected individuals susceptible to fasting hypoglycemia, hyperuricemia, lactic acidemia and hyperlipidemia. Hyperuricemia has been observed in a considerable number of patients and in some of those, clinical gout has occurred. Inhibited tubular secretion of uric acid due to hyperlacticacidemia and ketonemia, and overproduction of uric acid have been postulated as a mechanism for hyperuricemia in patients with GSD-Ia. A 30-year-old male was admitted with fatigue, foot pain and multiple gouty tophi on knee, ankle, and elbow. GSD-Ia and gout were confirmed by analysis of the G6Pase gene and tophi aspiration respectively. He was treated with allopurinol and uncooked cornstarch. After treatment, foot pain improved and the number and size of tophi were decreased.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Amido
/
Ácido Úrico
/
Doença de Depósito de Glicogênio
/
Alopurinol
/
Glucose-6-Fosfatase
/
Hiperuricemia
/
Cotovelo
/
Fadiga
/
Pé
/
Glucose
Limite:
Adult
/
Humans
/
Male
Idioma:
Ko
Revista:
Korean Journal of Medicine
Ano de publicação:
2002
Tipo de documento:
Article