期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 155A, 期 12, 页码 3063-3066出版社
WILEY
DOI: 10.1002/ajmg.a.34288
关键词
Pearson marrow-pancreas syndrome; mitochondrial disorders; anemia; hematopoietic stem cell transplantation
资金
- IBISCUS, Lega per la Ricerca ed il trattamento della leucemia e dei tumori del bambino
Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease. (C) 2011 Wiley Periodicals, Inc.
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