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急诊科新生儿低体温和休克的一个不常见原因: Diamond Blackfan 贫血。

An unusual cause of neonatal hypothermia and shock in the emergency department: Diamond Blackfan Anemia.

机构信息

Department of Emergency Medicine, General Leonard Wood Army Community Hospital, Fort Leonard Wood, MO, United States of America.

Department of Pediatrics, Washington University, St. Louis Children's Hospital, St. Louis, MO, United States of America.

出版信息

Am J Emerg Med. 2024 Oct;84:190.e7-190.e9. doi: 10.1016/j.ajem.2024.07.022. Epub 2024 Aug 1.

Abstract

Diamond Blackfan Anemia (DBA) is a rare disease characterized by anemia secondary to impaired red blood cell production from bone marrow failure. We present a case of infantile hypothermia and shock caused by this clinical pathology. A seven-week-old infant was brought to the emergency department by the father with the chief complaint of abnormal breathing and low activity level throughout the day. Medical history was unremarkable for both the patient and the family. On examination, the infant was breathing 30 breaths per minutes, had a heart rate of 116, and a core temperature of 33 degrees Celsius. The infant was ashen in color, limp, with grunted breathing and minimal movement. Numerous abnormal laboratory readings were reported, with the most significant being a hemoglobin of 1.7 and a hematocrit of 7.4. Emergent blood transfusion was initiated, and the patient was eventually air-lifted to a pediatric hospital two hours away. This case highlights the imperative of a thorough history and examination and consideration of a broad differential for neonatal hypothermia and shock, especially in the setting of no obvious bleeding.

摘要

钻石-布莱克法恩贫血症(DBA)是一种罕见的疾病,其特征是骨髓衰竭导致的红细胞生成受损引起的贫血。我们报告了一例由这种临床病理引起的婴儿低体温和休克病例。一名 7 周大的婴儿由父亲带到急诊室,主要抱怨全天呼吸异常和活动水平低。患者和其家庭均无明显病史。检查时,婴儿呼吸 30 次/分钟,心率 116 次/分钟,核心体温 33 摄氏度。婴儿面色苍白,四肢瘫软,有呼噜声呼吸,活动极少。报告了许多异常的实验室读数,其中最重要的是血红蛋白为 1.7,血细胞比容为 7.4。紧急输血开始,患儿最终在 2 小时内被空运到一家 2 小时路程外的儿科医院。本病例强调了对新生儿低体温和休克进行彻底的病史和检查以及广泛鉴别诊断的必要性,特别是在没有明显出血的情况下。

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