Abstract:
:Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy. It is characteristic to find in bone marrow studies variable vacuolization in erythroblastic progenitors and ring sideroblasts. The diagnosis is established by genetic study of mitochondrial deoxyribonucleic acid performed by Southern blot analysis (complete mitochondrial deoxyribonucleic acid amplification by polymerase chain reaction -long), obtaining 70-80% deletion of 4977 bp (NMD 8343-13459). There is no curative therapy and support treatment is the only available nowadays. Death is frequent in early years of life.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Martínez de Zabarte Fernández JM,Rodríguez-Vigil Iturrate C,Martínez Faci C,García Jiménez I,Murillo Sanjuan L,Muñoz Mellado Adoi
10.5546/aap.2017.e24subject
Has Abstractpub_date
2017-02-01 00:00:00pages
e24-e27issue
1eissn
0325-0075issn
1668-3501journal_volume
115pub_type
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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doi:10.5546/aap.2017.eng.148
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journal_title:Archivos argentinos de pediatria
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doi:10.1590/S0325-00752009000500016
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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doi:10.5546/aap.2017.eng.562
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journal_title:Archivos argentinos de pediatria
pub_type: 共识发展会议,杂志文章
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752008000500007
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2012.e103
更新日期:2012-10-01 00:00:00
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752010000500012
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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journal_title:Archivos argentinos de pediatria
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更新日期:2021-02-01 00:00:00
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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