RESUMEN
We experienced catheter occlusion in two cases during continuous infusion of a new recombinant factor VIII concentrate (Kogenate FS, Bayer) during orthopedic surgery. In one of the cases, the infusion was completed by diluting Kogenate FS 1:4 with distilled water. These catheter occlusions might be caused by local clot formation due to the relatively high concentration of factor VIII in the continuous infusion route.
Asunto(s)
Coagulación Sanguínea , Cateterismo Periférico/efectos adversos , Factor VIII/administración & dosificación , Factor VIII/efectos adversos , Proteínas Recombinantes/administración & dosificación , Proteínas Recombinantes/efectos adversos , Adulto , Humanos , Infusiones Intravenosas , Masculino , Persona de Mediana Edad , Procedimientos OrtopédicosRESUMEN
UNLABELLED: Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Citrin, an aspartate glutamate carrier in mitochondria, is an essential component of the malate-aspartate NADH shuttle. Recently, citrin deficiency has been reported to manifest as neonatal intrahepatic cholestasis. We report here five cases with neonatal intrahepatic cholestasis caused by citrin deficiency. Genetic diagnosis revealed compound heterozygotes of 851del4/IVS11 + 1G-->A in two patients, IVS11 + 1G-->A/E601X, and IVS11 + 1G-->A/unknown in each one patient and homozygote for S225X in one patient. All cases revealed high levels of alpha-fetoprotein, which are not observed in CTLN2 patients. The condition was self-limiting and spontaneously disappeared after 5-7 months of age in four patients. However, one patient developed hepatic dysfunction from the age of 6 months and required a living-related liver transplantation at the age of 10 months. The patient showed complete recovery after transplantation, and now at the age of 3 years, shows normal growth and mental development. CONCLUSION: we report the first case of neonatal intrahepatic cholestasis caused by citrin deficiency with severe hepatic dysfunction requiring a living-related liver transplantation. Patients with this disorder should be followed up carefully, even during infancy.