RESUMO
Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation of the RRM2B gene.
Assuntos
Acidose Láctica/genética , Proteínas de Ciclo Celular/genética , Surdez/genética , Túbulos Renais Proximais/anormalidades , Doenças Mitocondriais/genética , Doenças Musculares/genética , Nefrocalcinose/genética , Doenças do Sistema Nervoso Periférico/genética , Ribonucleotídeo Redutases/genética , Sequência de Aminoácidos , DNA Mitocondrial/genética , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Mutação , SíndromeRESUMO
Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disease usually diagnosed postmortem. The clinical presentation is not typical, but usually implies refractory hypertension and cardiorespiratory failure. We present a case of a newborn with IIAC who had fetal hydrops and refractory hypertension which normalized soon after initialization of peritoneal dialysis. With this case report, we wanted to highlight that peritoneal dialysis may be beneficial an effective therapeutic option for patients with IIAC and severe refractory hypertension. Until now, peritoneal dialysis was never performed in the treatment of patients with IIAC.