[A regenerative anemia in infants: 2 cases of Pearson´s syndrome].

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 Pediatr

authors

Martínez de Zabarte Fernández JM,Rodríguez-Vigil Iturrate C,Martínez Faci C,García Jiménez I,Murillo Sanjuan L,Muñoz Mellado A

doi

10.5546/aap.2017.e24

subject

Has Abstract

pub_date

2017-02-01 00:00:00

pages

e24-e27

issue

1

eissn

0325-0075

issn

1668-3501

journal_volume

115

pub_type

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