Pearson's syndrome: a rare cause of non-immune hydrops fetalis

二维码有效期 120s

摘要篇首： Pearson's syndrome, or Pearson's marrow-pancreas syndrome, was first described in 1979 in four unrelated children.1 It is characterized by refractory sideroblastic anaemia with vacuolization of marrow progenitor cells, and exocrine pancreatic dysfunction. Its progressive nature, multisystem involvement and metabolic disturbances led to the subsequent identification of a unique mitochondrial DNA deletion in most affected patients.2 Despite the relentless clinical course, the majority of the patients with Pearson ' s syndrome present insidiously. Life-threatening presentation at birth is extremely rare. We report a case of Pearson ' s syndrome presenting with severe hydrops fetalis.

作者 李澤荷 ^[1] 林青雲 ^[2] 李志偉 ^[1] 鄺毅山 ^[1] 司徒紹昌 ^[3] 学术成果认领

作者单位 Department of Paediatrics,Tuen Mun Hospital, New Territories, Hong Kong, China ^[1] Department of Chemical Pathology, the Chinese University of Hong Kong, Prince of Wales Hospital, New Territories, Hong Kong, China ^[2] Department of Pathology,Tuen Mun Hospital, New Territories, Hong Kong, China ^[3]

关键词 hydrops fetalis mitochondrial cytopathy Pearson's syndrome sideroblastic anaemia

分类号 R3

栏目名称 CASE REPORTS

发布时间 2004-02-06

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