Pearson-Syndrom
Pearson-Syndrom
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皮尔逊综合症
DOI：
10.1007/s00112-018-0479-1
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发表时间：
2019
影响因子：
0.4
通讯作者：
D. Karall
中科院分区：
文献类型：
--
作者：
T. Zöggeler;S. Scholl;G. Kropshofer;R. Geiger;J. Mayr;M. Zlamy;K. Maurer;D. Karall
一名8周大的婴儿出现明显的苍白。引人注目的是肌肉张力减退和全血细胞减少，没有溶血迹象，铁状态也没有异常。遗传分析显示线粒体DNA中有一个大的缺失。因此，确诊为Pearson骨髓-胰腺综合征。直到男孩在4岁时死亡，反复感染发作和代谢危机都得到了治疗。贫血发作用输血治疗，胰腺外分泌功能不全用胰腺提取物治疗。皮尔森综合征没有因果治疗。
An 8‑week-old infant presented with noticeable pallor. Striking was a muscular hypotonia and pancytopenia without no signs of hemolysis and without abnormalities in the iron status. Genetic analyses revealed a large deletion in the mitochondrial DNA. Thus, the diagnosis of a Pearsonʼs marrow-pancreas syndrome was confirmed. Until the boy’s death at the age of 4 years recurrent infectious episodes and metabolic crises were treated symptomatically. Anemic episodes were treated with transfusions and exocrine pancreas insufficiency with pancreatic extract. There is no causal treatment for Pearsonʼs syndrome.