RESUMEN
A 7 1/2-year-old patient with glycogenosis type lb had chronic neutropenia, recurrent bacterial infections, and severe hypoglycemia in spite of continuous nasogastric feeding. She was treated with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation. Absolute neutrophil counts and platelet counts rapidly reached normal values, and infectious episodes were reduced. She resumed oral feeding after transplantation and had no subsequent hypoglycemic episodes.
Asunto(s)
Adyuvantes Inmunológicos/uso terapéutico , Enfermedad del Almacenamiento de Glucógeno Tipo I/terapia , Factor Estimulante de Colonias de Granulocitos/uso terapéutico , Trasplante de Hígado , Niño , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo I/cirugía , Humanos , Lenograstim , Proteínas Recombinantes/uso terapéuticoRESUMEN
We report two observations of intrahepatic cholestasis with normal serum levels of gamma-glutamyl-transpeptidase. These cases fit the diagnostic criteria of benign recurrent cholestasis and show that it, like Byler disease, is another form of pediatric intrahepatic cholestasis with a normal gamma-glutamyl-transpeptidase level in the infant.