RESUMO
Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable nonhematologic manifestations, sporadic genetic occurrence, and occasional spontaneous hematologic improvement. Because of the overlapping features and relative rarity of PS, we hypothesized that some patients in whom the leading clinical diagnosis is DBA actually have PS. Here, we evaluated patient DNA samples submitted for DBA genetic studies and found that 8 (4.6%) of 173 genetically uncharacterized patients contained large mtDNA deletions. Only 2 (25%) of the patients had been diagnosed with PS on clinical grounds subsequent to sample submission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia.
Assuntos
Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Anemia de Diamond-Blackfan/diagnóstico , Anemia de Diamond-Blackfan/genética , DNA Mitocondrial/genética , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Acil-CoA Desidrogenase de Cadeia Longa/genética , Criança , Pré-Escolar , Síndrome Congênita de Insuficiência da Medula Óssea , Análise Mutacional de DNA , Diagnóstico Diferencial , Humanos , Lactente , Mutação , Deleção de SequênciaRESUMO
The association between hepatoblastoma and low birth weight documented recently in the literature has yet to be well explained, in particular the suggestion that these patients may have a more aggressive form of the disease. From 1989 to 2003, our institution treated four patients for hepatoblastoma who had birth weights of less than 1,500 g. Notable was 100% patient survival despite bilateral and, in one case, recurrent disease. Speculation regarding the etiology of this subset of hepatoblastoma has included damage to developing hepatocytes induced by oxygen free radicals. Our patients universally had pulmonary disease requiring prolonged supplemental oxygen and ventilatory support. However, our review supports no changes in the standard care of low birth weight infants or in managing those who develop hepatoblastoma.
