Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
Blood
; 124(3): 437-40, 2014 Jul 17.
Article
en En
| MEDLINE
| ID: mdl-24735966
ABSTRACT
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
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Anemia de Diamond-Blackfan
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Enfermedades Mitocondriales
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Acil-CoA Deshidrogenasa de Cadena Larga
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Errores Innatos del Metabolismo Lipídico
/
Enfermedades Musculares
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Infant
Idioma:
En
Revista:
Blood
Año:
2014
Tipo del documento:
Article