RESUMO
Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears revealed erythroblastosis, poikilocytosis, and red cells with stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduced. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcinosis appeared soon thereafter. After 3 years of follow-up the child is doing reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain given the potential for hematologic and renal complications. (Blood. 2000;96:1602-1604)
Assuntos
Acidose Tubular Renal/genética , Proteína 1 de Troca de Ânion do Eritrócito/genética , Esferocitose Hereditária/genética , Acidose Tubular Renal/etiologia , Feminino , Deleção de Genes , Humanos , Esferocitose Hereditária/etiologiaRESUMO
Fetal tachyarrhythmia may constitute a risk for the fetus, therefore early treatment is indicate for all cases of tachydysrhythmia, with or without hydrops, in order to prevent irreversible hydrops. A case report is described of supraventricular paroxysmal tachycardia with digoxin in utero therapy in which pharmacological intervention was successful. Some comments are regarding the experience of the multidisciplinary team at Bissaya-Barreto Maternity in the treatment and orientation of fetal tachydysrhythmias.