RESUMO
Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two major subtypes are GSD-Ia, caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib, caused by a deficiency of glucose-6-phosphate transporter (G6PT). We report that a substantial improvement was achieved following several infusions of hepatocytes in a patient with GSD-Ib. Hepatocytes were isolated from the unused cadaveric whole livers of two donors. At the first transplantation, approximately 2 x 10(9) cells (2% of the estimated recipient's total hepatocytes) were infused. Seven days later 1 x 10(9) (1% of liver mass) cryopreserved hepatocytes from the same donor were infused, and an additional 3 x 10(9) (3% of liver mass) cells from the second donor were infused 1 month after the second transplantation. After the hepatocyte transplantation, the patient showed no hypoglycemic symptoms despite the discontinuation of cornstarch meals. Liver biopsies on posttransplantation days 20 and 250 showed a normal level of glucose-6-phosphatase activity in presolubilization assay that was very low before transplantation. This was the first and successful clinical hepatocyte transplantation in Korea. In this study, hepatocyte transplantation allowed a normal diet in a patient with GSD-Ib, with substantial improvement in their quality of life. Hepatocyte transplantation might be an alternative to liver transplantation and dietary therapy in GSD-Ib.
Assuntos
Glucose-6-Fosfatase/metabolismo , Glucose-6-Fosfato/metabolismo , Doença de Depósito de Glicogênio Tipo I/metabolismo , Doença de Depósito de Glicogênio Tipo I/terapia , Hepatócitos/transplante , Adolescente , Cadáver , Seguimentos , Glucose-6-Fosfato/deficiência , Doença de Depósito de Glicogênio Tipo I/patologia , Hepatócitos/enzimologia , Humanos , Imunossupressores/uso terapêutico , Coreia (Geográfico) , Fígado/citologia , Fígado/imunologia , Masculino , Qualidade de Vida , Imunologia de Transplantes/efeitos dos fármacos , Transplantes , Resultado do TratamentoAssuntos
Glucose-6-Fosfato/deficiência , Hemoglobinúria/induzido quimicamente , Hemólise , Vitaminas/efeitos adversos , Transfusão de Sangue , Feminino , Hemoglobinúria/complicações , Hemoglobinúria/terapia , Humanos , Pessoa de Meia-Idade , Esclerose Múltipla/sangue , Esclerose Múltipla/complicações , Esclerose Múltipla/terapiaRESUMO
A case of neonatal kernicterus due to glucose-6-phosphate dehydrogenase deficiency (G6PD) is described. Diagnosis was delayed as the primary healthcare attendant had no knowledge of this condition and its potential to cause rapidly escalating levels of bilirubin and as she was reassured by the lack of signs of systemic illness or anaemia. The baby has been left deaf, blind, intellectually handicapped, epileptic and paralysed due to athetoid cerebral palsy. The re-organization of perinatal care in New Zealand, which has led to neonates sometimes being managed solely by primary healthcare attendants with minimal training in paediatrics may have increased the risk of a late diagnosis of potentially devastating diseases such as this.