Pediatric Hematology and Oncology, University of Catania, Catania, Italy.
Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 Oct 19.
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.
皮尔逊骨髓胰腺综合征是一种致命性疾病，主要在婴儿期诊断，由线粒体 DNA 突变引起。我们在此报告了 4 例以血液系统异常起病的皮尔逊综合征患儿。其中 3 例死亡，1 例接受造血干细胞移植后死于继发性恶性肿瘤。在后一例患者中，移植纠正了代谢性酸中毒等血液系统和非血液系统问题，因此我们认为在疾病早期可以考虑作为一种有效治疗方法。
