Author(s):
Cardoso, C. 
; Bandeira, A. ; Martins, M. ; Martins, E.
Date: 2012
Persistent ID: http://hdl.handle.net/10400.16/1425
Origin: Repositório Científico do Centro Hospitalar do Porto
Document details
Genes, crianças e pediatras: Associação VACTERL e doença mitocondrial
Description
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.
Document Type
Article
Language Portuguese
Language Portuguese
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