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  • Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
    Publication . 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
    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.
    2000Journal article Open access Show more
  • Fetopatia pelo uso de inibidores da enzima de conversão da angiotensina
    Publication . Neves, S; Santos, R; Gomes, C; Correia, AJ
    Angiotensin Converting Enzyme Inhibitors (ACEI) are commonly used antihypertensive drugs, although contraindicated during pregnancy by fetopathy association such as renal dysgenesis, oligohydramnios, hipocalvaria, pulmonary hypoplasia, intrauterine growth restriction, and neonatal anuric renal failure. The authors present a clinical report of a child that developed neonatal anuric renal failure with peritoneal dialysis support by an in uterus exposure to ACEI with very good recovery. This case and literature review states the need to avoid ACEI prescription to Young women and it's suspension as soon as possible during pregnancy.
    2010Journal article Open access Show more