Pearson syndrome. Case report.

被引：0
|
作者：
Cammarata-Scalisi, Francisco [1 ]
Lopez-Gallardo, Ester [2 ,3 ]
Emperador, Sonia [2 ,3 ]
Ruiz-Pesini, Eduardo [4 ]
Da Silva, Gloria
Camacho, Nolis [5 ,6 ]
Montoya, Julio [2 ,3 ]
机构：
[1] Univ Los Andes, Fac Med, Dept Puericultura & Pediat, Unidad Genet Med, Merida 5101, Venezuela
[2] Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, Zaragoza, Spain
[3] CIBERER, Zaragoza, Spain
[4] Fdn Agencia Aragonesa Invest & Desarrollo ARAID, Zaragoza, Spain
[5] Univ Los Andes, Unidad Crecimiento & Nutr, Dept Puericultura & Pediat, Merida 5101, Venezuela
[6] Inst Autonomo Hosp Univ Los Andes, Merida, Venezuela
来源：
INVESTIGACION CLINICA | 2011年 / 52卷 / 03期
关键词：
Pearson syndrome; sideroblastic anemia; exocrine pancreatic dysfunction; deletion; mitochondrial DNA; SIDEROBLASTIC ANEMIA; INFANT; DELETION; ONSET;
D O I：
暂无
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondria! DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondria! disease.
引用
收藏
页码：261 / 267
页数：7
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