Pearson Syndrome Diagnosed by Deletion of Mitochondrial DNA.
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概要
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Pearson syndrome is characterized by refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction which occurs during childhood. We reported a male infant suffering from severe anemia since his 6th day of life. He was treated with red blood cell transfusions frequently. Following the use of ubenimex from 6 months old, red blood cell transfusions were not required. He was normal growth and development. However, he developed severe dehydration and metabolic acidosis due to rotavirus infection at 23 months of age. Then dementia and motor disorders also developed. At 28 months of age, he died from <I>Pseudomonas aeruginosa</I> sepsis with severe metabolic acidosis and hypoglycemia. Postmortem specimens showed deletions of the mitochondrial DNA in each tissue. The deletions consisted of 4977bp from 8483 to np 13459. The etiology of anemia may be caused by heme synthetic disturbance because of high protoporphyrin level in his red blood cell and ringed sideroblast.
- 特定非営利活動法人 日本小児血液・がん学会の論文
特定非営利活動法人 日本小児血液・がん学会 | 論文
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