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3β-羟基-Δ5-C27类固醇脱氢酶缺陷1例病例报告

A case report of 3β-hydroxy-Δ5-C27 steroid dehydrogenase deficiency
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摘要 1病例资料:女,4岁,因“凝血功能异常伴肝脾肿大3年”于2018-1-8入郑州大学第一附属医院(我院)儿内科。患儿1岁7个月时(2014-9-6)因“头皮血肿反复不愈”至我院就诊,凝血功能指标见表1,肝功能未见异常(表2),考虑“凝血因子K缺乏”,予“肌注维生素K1、输注新鲜冰冻血浆”后头皮血肿消失,凝血功能改善(表1,2014-9-11)。1年前无诱因鼻衄至当地医院就诊,查PLT 65×10^ 9 ·L^-1 ,骨髓细胞学提示PLT减少,肝肾功能指标均在正常值范围,遂至我院。
作者 张碧 田培超 赵彩红 王越 史丹丹 石小亚 姚运 ZHANG Bi;TIAN Pei-chao;ZHAO Cai-hong;WANG Yue;SHI Dan-dan;SHI Xiao-ya;YAO Yun
出处 《中国循证儿科杂志》 CSCD 北大核心 2019年第2期146-148,共3页 Chinese Journal of Evidence Based Pediatrics
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