Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 239-247, 2014.
Artículo
en Inglés
| WPRIM
| ID: wpr-195963
ABSTRACT
PURPOSE:
There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center.METHODS:
We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Clinical manifestations, laboratory results, treatment, and prognosis were investigated.RESULTS:
Twenty-one patients were included in the study. The types of 17 patients were confirmed by enzyme activity tests and/or gene analysis. GSD Ia was diagnosed in 7 patients (33.3%), Ib in 1 patient (4.8%), III in 2 patients (9.5%), IV in 1 patient (4.8%), and IX in 6 patients (28.6%). Types other than GSD I constituted 52.9% (9/17) of the patients diagnosed with a specific type of hepatic GSD. The median age at presentation was 2 years. Hepatomegaly was observed in 95.2%, elevated liver transaminases in 90.5%, and hyperlactacidemia in 81.0% of the patients. The duration for follow-up was 77+/-62.0 months. Uncooked corn starch was initiated in all the patients. No mortality was observed during the follow-up period, and liver transplantation was performed in 14.3%.CONCLUSION:
Types other than GSD I comprised more than half of the patients diagnosed with a specific type of hepatic GSD. Clinical suspicion and thorough evaluation of hepatic GSDs in Korea should be focused not only on GSD I, but also on other types.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pronóstico
/
Almidón
/
Enfermedad del Almacenamiento de Glucógeno
/
Estudios Retrospectivos
/
Estudios de Seguimiento
/
Mortalidad
/
Trasplante de Hígado
/
Zea mays
/
Transaminasas
/
Hepatomegalia
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Año:
2014
Tipo del documento:
Artículo
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