Cupriuresis in parents of patients with Wilson disease before and after oral intake of d-penicillamine / Cuprúria em pais de pacientes com doença de Wilson antes e depois da administração oral de d-penicilamina
AUTOR(ES)
Jakeliny Vieira
DATA DE PUBLICAÇÃO
2007
RESUMO
Wilson disease is a biliary copper excretion disturbance, of recessive autossomic heritage, due to ATP7B gene mutations. The copper not bound to apoceruloplasmin circulates in the organism bound to amino acids and accumulates mainly in the liver and brain being excreted by the kidneys. Urinary copper higher than 100ug/24h can be useful in the diagnosis, but only about 20% of Wilson disease patients have abnormal basal levels. In this case, d-penicillamine (DPA) administration can lead, in children, to levels higher than 1.600ug/24h. Twenty five fathers and twenty five mothers of wilson disease patients (mean 61 years for male, and 57 years for female) were assessed in order to obtain urinary copper levels of probable heterozygote adults. Fasting liver enzymes, copper and ceruloplasmin serum levels were obtained along with 24h urinary copper excretion. After, patients got DPA 1.0g by oral route, twice a day, while collecting urine for 24h urinary copper excretion dosage. These analyses were performed by elethrotermic atomic absortion spectrometry method. Liver enzyme levels were similar in men and women but those of alkaline phosphatase were higher in women (M= 68.72 UI/L; F=81.68 UI/L). Serum ceruloplasmin (F=21.72mg/dl; F=27.78mg/dl) and copper (M=71.38 ug/dl; F=88.0 ug/dl) levels were higher in women than in men (p<0.001). Urinary copper levels before DPA were, 43ug/24h (mean) and 21.40 ug/24h (median); and, after DPA, 523.54 ug/24h (mean) and 511.5 ug/24h (median). Basal urinary copper levels in men were 26.9 ug/24h, and in women were 18.67 ug/24h (p=0.005). With the results of this study, we defined a possible range for urinary copper before and after oral intake of DPA in parents of Wilson disease patients. Furthermore, fathers had lower levels of serum copper and of ceruloplasmin, and greater levels of baseline cupriuresis than mothers; and finally the normal range for serum copper and ceruloplasmin, and urinary copper should be differentiated according to the gender.
ASSUNTO(S)
degeneração hepatolenticular penicilamina/urina chelating agents cobre/urina ceruloplasmin ceruloplasmina heptolenticular degeneration quelantes copper/urine penicillamine/urine
