Anemia hemolítica como presentación inicial de enfermedadde Wilson: un caso pediátrico

Abstract

RESUMENLa enfermedad de Wilson es una enfermedad hereditaria de tipo autosómico recesivo del metabolismo del cobre; produce toxicidad por la acumulación de este. La anemia hemolítica en la enfermedad de Wilson ocurre hasta en un 17% en algún momento de la enfermedad; sin embargo, es inusual como presentación inicial. Se expone un caso de enfermedad de Wilson en un niño de 11 años con anemia hemolítica, prueba de Coombs negativa y elevación de enzimas hepáticas. Se realizó un fondo de ojo, que mostró anillos de Kayser-Fleischer, junto con niveles bajos de ceruloplasmina y elevación en la excreción del cobre urinario. El paciente se trató con D-penicilamina y piridoxina. Palabras clave: enfermedad de Wilson, anemia hemolítica, prueba de Coombs. ABSTRACTWilson disease is an autosomal recessive disorder of the copper`s hepatic metabolism; it results in toxicity due to accumulation of the mineral. The hemolytic anemia is present in 17% at some point of the disease, although it is a rare initial clinical presentation. Case report: 11 years old boy who presented with negative Coombs hemolytic anemia and elevation of liver enzymes. The possibility of Wilson disease was considered, which was confirmed with the finding of a Kayser-Fleischer ring in the eye exam. He also had a low ceruloplasmin level in plasma and a high urinary copper excretion. He was treated with D-penicillamine and pyridoxine.

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

“…From the 34 diagnosed patients, 23 were new and 11 had been previously reported. 18,19 Previously reported patients had prior clinical diagnosis and were later confirmed molecularly (Table 1). There were 15 female and 19 male patients diagnosed with no significant age difference between sexes (females = 7.9 ± 4.5 years, males = 9.4 ± 2.6 years, Welch ANOVA P = .2654).…”

Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson’s Disease—Case Report and Literature Review

“…Thus, in addition to the classical symptoms, some patients with WD may also develop hemolytic anemia, a condition in which red blood cells are destroyed at a faster rate than they are produced. Hemolytic anemia in WD is thought to be caused by the direct toxic effects of copper on red blood cells, leading to oxidative damage and destruction of the cell membrane [25,[41][42][43][44]. However, the specific mechanisms are not completely understood [25,41,42,45].…”

“…Hemolytic anemia in WD is thought to be caused by the direct toxic effects of copper on red blood cells, leading to oxidative damage and destruction of the cell membrane [25,[41][42][43][44]. However, the specific mechanisms are not completely understood [25,41,42,45]. The severity of hemolytic anemia in WD can vary widely, with some patients experiencing mild symptoms, while others may require blood transfusions or other interventions.…”