Minakata Shunsuke, Sakata Naoki, Wada Norihisa, Konishi Yuhei, Marutani Satoshi, Enya Takuji, Nakagawa Hidenori, Wada Hiroshi, Takemura Tsukasa
Department of Pediatrics, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka, Japan.
Department of Pediatrics, Yodogawa Christian Hospital, Osaka City, Osaka, Japan.
Pediatr Int. 2016 Nov;58(11):1222-1225. doi: 10.1111/ped.13093. Epub 2016 Oct 6.
Transient abnormal myelopoesis is mostly self-resolving and has a good prognosis, but some patients subsequently die of liver fibrosis. We report the case of an infant with Down syndrome who developed life-threatening liver fibrosis at the same time as the blasts were about to disappear. This patient also had a marked increase in eosinophils, which were possibly harboring a GATA1 mutation and were expressing a high level of platelet-derived growth factor-B mRNA; these may have been involved in the development of liver fibrosis. Low-dose cytosine arabinoside therapy effectively treated both hypereosinophilia and liver fibrosis.
短暂异常髓系造血大多可自行缓解，预后良好，但部分患者随后死于肝纤维化。我们报告了1例唐氏综合征婴儿病例，其在原始细胞即将消失时出现了危及生命的肝纤维化。该患者的嗜酸性粒细胞也显著增多，可能存在GATA1突变，并表达高水平的血小板衍生生长因子-B mRNA；这些可能与肝纤维化的发生有关。低剂量阿糖胞苷治疗有效改善了嗜酸性粒细胞增多症和肝纤维化。
