Autor(es): Ribeiro, ML ; Alliosio, N ; Almeida, H ; Gomes, C ; Texier, P ; Lemos, C ; Mimoso, G ; Morlé, L ; Bey-Cabet, F ; Rudigoz, RC ; Delaunay, J ; Tamagnini, G
Data: 2000
Identificador Persistente: http://hdl.handle.net/10400.4/1407
Origem: Repositório do Centro Hospitalar e Universitário de Coimbra
Assunto(s): Acidose Tubular Renal; Esferocitose Hereditária
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.
