达非尼治疗新生儿多系统朗格汉斯细胞组织细胞增多症1例。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-07-02 DOI:10.3760/cma.j.cn112140-20230301-00149

Y Zhu, Q Zhou, Y Yu, Y Cao, C Chen, X W Zhai, J Wang, H S Wang

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[A case of neonatal multi-system Langerhans cell histiocytosis treated by dabrafenib].

患儿　女，8日龄，生后即有皮疹、贫血、白细胞及血小板减少、消化道出血等临床表现。经皮肤、肠黏膜活检，病理及免疫组织化学明确诊断为新生儿多系统朗格汉斯细胞组织细胞增生症，血液、皮肤、肠道同时受累。检测患儿外周血及病理发现BRAF基因V600E位点存在变异。选用BRAF基因V600E变异的抑制靶向药达拉非尼口服治疗。随访至患儿1岁6月龄，未再出现皮疹、贫血、白细胞减少、血小板减少及消化道出血等症状。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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