Autor(es):
Cardoso, C. 
; Bandeira, A. ; Martins, M. ; Martins, E.
Data: 2012
Identificador Persistente: http://hdl.handle.net/10400.16/1425
Origem: Repositório Científico do Centro Hospitalar do Porto
Detalhes do Documento
Genes, crianças e pediatras: Associação VACTERL e doença mitocondrial
Descrição
VACTERL association is characterized for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In this patient we found a also a poor weight gain and microcephaly associated with normochromic and normocytic, anemia, uncontrolled glycemia (hypoglycemia and hyperglycemia) and glycosuria with tubulopathy, nephrotic proteinuria and metabolic acidosis with hyperlactacidemia with led us to suspect and confirm a mitochondrial respiratory chain defect.
VACTERL association is characterized for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In this patient we found a also a poor weight gain and microcephaly associated with normochromic and normocytic, anemia, uncontrolled glycemia (hypoglycemia and hyperglycemia) and glycosuria with tubulopathy, nephrotic proteinuria and metabolic acidosis with hyperlactacidemia with led us to suspect and confirm a mitochondrial respiratory chain defect.
Tipo de Documento
Artigo
Idioma Português
Idioma Português
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