新生儿一过性骨髓增生异常综合征

N. K. Gabitova, I. N. Cherezova, F. M. Kazakova, I. V. Osipova
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引用次数: 0

摘要

本文介绍了一例独特的 21 三体综合征患儿特有的一过性骨髓增生异常综合征。该病症的临床表现无特异性,血液学表现与急性白血病相似。一过性骨髓增生异常综合征的独特之处在于出生后数周或数月内可自发缓解,和/或在出生后 4-5 年内自发缓解后发展为急性髓系白血病。骨髓增生异常综合征发病的先决条件是细胞中存在第 21 号染色体三体和 GATA1 基因突变的胚泡克隆。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Transient myelodysplastic syndrome in a newborn
The article presents a unique case of a transient myelodysplastic syndrome characteristic of children with trisomy 21. This condition has non-specific clinical manifestations and a specific hematological picture similar to those of acute leukemia. The uniqueness of transient myelodysplastic syndrome lies in the spontaneous resolution within a few weeks or months after birth and/or the development of acute myeloid leukemia after spontaneous regression in the first 4–5 years of life. A prerequisite for the development of myelodysplastic syndrome is the presence of a blast clone of trisomy of the 21st chromosome and a mutation in the GATA1 gene in the cells.
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