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Genes, crianças e pediatras: Associação VACTERL e doença mitocondrial
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Orientador(es)
Resumo(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.
Descrição
Palavras-chave
Contexto Educativo
Citação
Nascer e Crescer 2012; 21(4): 266-267