RESUMO
Erythrocyte uroporphyrinogen decarboxylase (UROD) activity was measured to classify 118 Spanish patients with porphyria cutanea tarda (PCT) into three subtypes: sporadic-, familial- and type III-PCT. Seventy-four patients (63%) had eythrocyte UROD activity within the normal range (74% to 126% of the mean activity of 43 healthy controls) and were classified as sporadic-PCT (47%) or as type III-PCT (16%) whenever a family history of PCT was documented. Forty-four patients (37%) had decreased UROD activity and were classified as familial-PCT. The frequency of both familial-PCT and type III-PCT was higher than reported in other countries. The clinical expression of PCT was associated with the coexistence of two or more risk factors in 80% of the sporadic-PCT patients and in 89% of the familial-PCT patients. Hepatitis C virus and alcohol abuse were risk factors frequently found in these patients, being unrelated to age of onset of skin lesions. A heavy alcohol intake was the main risk factor for type III-PCT. Estrogens appeared as a precipitating factor for women with familial-PCT. The H63D mutation in the hemochromatosis type 1 gene was more frequently found than the C282Y mutation. Both mutations appeared to play a role as precipitating factors in sporadic-PCT when associated with hepatitis C virus infection and alcohol abuse.
Assuntos
Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/genética , Adulto , Idade de Início , Consumo de Bebidas Alcoólicas , Alelos , Estrogênios/metabolismo , Saúde da Família , Feminino , Predisposição Genética para Doença , Hemocromatose/genética , Proteína da Hemocromatose , Hepatite C/complicações , Antígenos de Histocompatibilidade Classe I/genética , Humanos , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Mutação , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/virologia , Fatores de Risco , Espanha , Uroporfirinogênio Descarboxilase/sangueRESUMO
To ascertain the possible role of iron as a risk factor for cerebral ischemia, we studied the serum levels of iron, transferrin and ferritin in 42 patients between the third and seventh days after a cerebral ischemic event (transient ischemic attack, reversible ischemic neurological deficit or cerebral infarction) and in 62 matched controls. The serum levels of iron did not differ significantly between cerebral ischemic patient and control groups. Serum transferrin levels were lower and ferritin higher in stroke patients than in controls. These values were not influenced by age, blood pressure, or smoking and alcohol drinking habits. These results suggest that iron stores could be related to the risk for cerebral ischemia.