RESUMEN
Wilson's disease, an autosomal recessive disorder of copper transport, usually presents with symptoms from the liver or central nervous system. Rarely, the initial manifestation is fulminant hepatic failure. The abnormal gene (ATP7B) is located on chromosome 13q and encodes a copper-transporting ATPase. A large number of mutations have been reported. We describe a previously healthy 16-year-old girl who presented with fulminant hepatic failure. The girl died within 24 h of admission to a hospital from refractory shock. Autopsy revealed cirrhosis and widespread necrosis of the liver. The copper content of the liver was markedly increased (975 micrograms/g dry weight), strongly suggesting a diagnosis of Wilson's disease. Genetic studies revealed that the girl was homozygous for the mutation 2007 del7, which is the mutation found in all Wilson's disease patients previously identified in Iceland. This is the first known case of fulminant hepatic failure due to Wilson's disease in Iceland. Despite the same mutation, the clinical picture is vastly different from other Icelandic patients with Wilson's disease, who all presented with relatively late-onset neurological disease. This suggests that factors other than the specific mutation have significant impact on the phenotype of the disease.
Asunto(s)
Deleción Cromosómica , Mutación del Sistema de Lectura , Degeneración Hepatolenticular/genética , Adolescente , Resultado Fatal , Femenino , Genotipo , Humanos , Islandia , FenotipoRESUMEN
Portosystemic shunting (PSS) was evaluated in 32 patients with chronic liver disease by the rectal administration of iodine-123 I-amphetamine (IMP method), a radionuclide which is rapidly absorbed from the sigmoid and extracted by liver and lungs. Simultaneous measurement of pulmonary and hepatic uptake supplies a shunt fraction (SF) as an index of PSS. The IMP method was compared with the ammonia tolerance test (NH3TT), and there proved to be a significant correlation between these two methods (r = 0.75, p < 0.001). Assuming that an increase of > 7 mumol/l in arterial ammonia concentration after NH3TT represents PSS, the IMP method had a sensitivity of 0.93. When fasting (NH3) was > 50 mumol/l, all patients showed pathological PSS with either method, but this was also the case in 50% of patients with normal basal arterial ammonia. There was also a significant correlation between the IMP method and the Child-Pugh classification (r = 0.75, p < 0.001). Endoscopy in 28 patients revealed absence of varices in 11, of whom, however, 7 (64%) had an increased SF and although all 15 patients with ascites had increased SF, this was also the case in 12 of the 17 patients without ascites. In conclusion, PSS evaluation using IMP is a non-invasive, sensitive method without patient discomfort which might be used in the staging and follow-up of chronic liver disease.
Asunto(s)
Hipertensión Portal/fisiopatología , Sistema Porta/fisiopatología , Amoníaco , Anfetamina , Várices Esofágicas y Gástricas/fisiopatología , Femenino , Humanos , Radioisótopos de Yodo , Cirrosis Hepática/fisiopatología , Masculino , Métodos , Persona de Mediana EdadAsunto(s)
Síndrome de Inmunodeficiencia Adquirida/genética , Linfoma de Burkitt/genética , Aberraciones Cromosómicas , Síndrome de Inmunodeficiencia Adquirida/complicaciones , Adulto , Linfoma de Burkitt/etiología , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 8 , Elementos Transponibles de ADN , Marcadores Genéticos , Humanos , Cariotipificación , Masculino , Translocación GenéticaRESUMEN
In order to predict the outcome of patients with acute neurological symptoms at discharge, the concentration of creatine kinase isoenzyme BB (CK-BB) was determined by radioimmunoassay in the cerebrospinal fluid (CSF) of 115 consecutive patients. On admission and over the next 3 days the concentration of CK-BB was significantly increased in patients with brain death and other neurological sequelae compared with those with favourable outcome. There was a variation in time in concentrations of CK-BB between diseases causing neurological sequelae. Thus, cerebrovascular haemorrhages caused highest concentrations on admission, but cerebral ischaemia due to cardiac arrest caused highest concentrations 3 days after admission. On admission the CK-BB measurements were highly specific with high predictive value of positive result when distinguishing patients with brain death and other neurological sequelae from those without complications at discharge. However, when distinguishing patients with brain death from those with other neurological sequelae, the test was most specific and had highest predictive value of a positive result 3 days after admission.