RESUMEN
We present here the case-report of a man with a severe G6PD deficiency revealed after the use of rasburicase (uricolytic drug) during a chemotherapy protocol. The genotypic analysis done to confirm the biochemical measurement revealed the 'Mediterranean mutation' at the hemizygous state (G6PD gene is located on chromosome X). Consequently to this diagnose, a search for G6PD deficiency has been performed (at the biochemical and genotypic levels) for the 9 children (7 daughters and 2 sons) of the proband. Surprisingly, one of his son was found to be hemizygous for the mediterranean mutation and one of his daughter appeared homozygous for this same mutation. This implies that the proband's wife (not studied) is certainly heterozygous for the mediterranean mutation, as it is very unlikely that this mutation had appeared de novo for two children of this couple.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Glucosafosfato Deshidrogenasa/sangre , Leucemia Linfocítica Crónica de Células B/tratamiento farmacológico , Adolescente , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Cromosomas Humanos Par 10 , Codón/genética , Ciclofosfamida/administración & dosificación , Doxorrubicina/administración & dosificación , Glucosafosfato Deshidrogenasa/genética , Heterocigoto , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Prednisolona/administración & dosificación , Vincristina/administración & dosificaciónRESUMEN
We have studied the value of decarboxyprothrombin assay, in association with that of alpha-foeto-protein (AFP), for the biological diagnosis of hepatocellular carcinoma. Levels of decarboxyprothrombin and AFP were measured in 60 patients divided into two groups: 37 patients with hepatocellular carcinoma from liver cirrhosis, confirmed by histology; 23 patients with liver cirrhosis, but having not developed hepatocellular carcinoma. The cirrhosis was in most of cases consecutive to hepatitis B or hepatitis C infection, or of alcoholic origin. Levels of decarboxyprothrombin were also determined in a control group of 50 healthy subjects. Plasma decarboxyprothrombin concentrations were measured by enzyme immunoassay. All normal subjects had levels of decarboxyprothrombin below 2 micrograms/l. Out of 37 patients with hepatocellular carcinoma, 24 (64.9%) showed elevated decarboxyprothrombin levels, while this marker was increased only in 26% of cirrhotic patients. Decarboxyprothrombin and AFP levels are elevated in 48.6% of hepatocellular carcinoma, normal in 16.2% of hepatocellular carcinoma and dissociated in 35.2% of cases; respectively 18.9% and 16.2% of patients with hepatocellular carcinoma have either high AFP level or high decarboxyprothrombin level. The simultaneous determination of decarboxyprothrombin and AFP appear to be useful, since the combination of the two markers allows the detection of 83.8% of hepatocellular carcinoma, while the detection rate is only 67.5% with using AFP alone. No significant correlation was observed between plasma decarboxyprothrombin and serum AFP levels.