The Study of the Initial Presentations of Wilson Disease at Diagonosis / 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
;
: 199-206, 2001.
Artículo
en Coreano
| WPRIM
| ID: wpr-191710
ABSTRACT
PURPOSE:
To review the clinical and laboratory features of patients with Wilson disease at diagnosis.METHODS:
In this retrospective study, records of all 20 patients, who were diagnosed as having Wilson disease at the Paik hospital in Busan from 1990 to 2000, were reviewed.RESULTS:
Out of 20 patients, 12 pateints (60%) have hepatic presentation alone, 2 patients (10%) have neurologic presentation, 4 patients (20%) have hepatic and neuropsychiatric presentation, and one patient (5%) has hematologic presentation at diagnosis. One patient (5%) has neither symptom nor laboratory finding of Wilson disease except very low serum ceruloplasmin level and positive family history. Family screening test revealed 3 cases of Wilson disease. 12 patients were revealed to be combined with liver cirrhosis at diagnosis.CONCLUSION:
Early diagnosis and treatment is very important in patients with Wilson disease. Children or adolescents who manifest symptoms of hepatitis, who has prolonged elevation of liver enzymes, and has family history of hapatitis of unknown origin, with mild hematologic or urinary abnormalities must be suspected to have Wilson disease. Also, in adolescents with extrapyramidal symptoms or other neuropsychiatric symptoms, liver function test should be done.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ceruloplasmina
/
Tamizaje Masivo
/
Estudios Retrospectivos
/
Diagnóstico Precoz
/
Diagnóstico
/
Hepatitis
/
Degeneración Hepatolenticular
/
Hígado
/
Cirrosis Hepática
/
Pruebas de Función Hepática
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
/
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Adolescente
/
Niño
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Pediatric Gastroenterology and Nutrition
Año:
2001
Tipo del documento:
Artículo
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