Genes, crianças e pediatras

Cardoso, Cátia; Bandeira, Anabela; Martins, Márcia; Martins, Esmeralda

http://hdl.handle.net/10400.26/34596

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Abstract(s)

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.

Keywords

Associação VACTERL doença mitocondrial doença mitocondrial Madeira Island Região Autóoma da Madeira ostium secundum ecocardiografia mitochondrial respiratory chain defect. vertebral defects and atresia cardiac defects tracheo-esophafeal fistula