新生儿重症监护室高胆红素血症和遗传性球形红细胞增多症新生儿外周通道换血一例报告。

IF 1.6
Chandler Williams, Valentyna Tack, Sudeepta Basu, Emily Rosenstein
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引用次数: 0

摘要

背景:严重的新生儿非结合性高胆红素血症与神经毒性风险相关,因此需要及时诊断和治疗干预,包括光疗和交换输血。虽然相对罕见,遗传性球形红细胞增多症(HS)是一种常见的非同种免疫溶血性疾病,与严重的新生儿高胆红素血症和儿童期溶血性贫血有关。HS是由红细胞膜中编码1种或更多蛋白质的基因突变引起的,导致细胞膜结构丧失和细胞功能障碍。HS的临床谱差异很大,导致在新生儿期诊断不足,管理不同于同种免疫溶血性疾病。临床表现:在这个病例报告新生儿严重的非共轭高胆红素血症由于HS。初步诊断:HS所致严重非结合性高胆红素血症。干预措施:光疗和换血。结果:随后胆红素水平下降,新生儿安全出院,并指示随访儿科医生,血液学和遗传学门诊预约。实践建议:在本病例报告中,我们强调需要在新生儿护理人员中建立高怀疑指数,并讨论管理方案。我们还讨论了静脉注射免疫球蛋白作为诊断线索缺乏反应以及使用外周静脉通道进行换血的可行性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exchange Transfusion via Peripheral Access for Neonate With Hyperbilirubinemia and Hereditary Spherocytosis in the NICU: A Case Report.

Background: Severe neonatal unconjugated hyperbilirubinemia is associated with the risk of neurotoxicity and hence warrants prompt diagnostic and therapeutic interventions, including phototherapy and exchange transfusions. Although relatively rare, Hereditary spherocytosis (HS) is one of the common non-alloimmune hemolytic disorders associated with severe neonatal hyperbilirubinemia and hemolytic anemia during childhood. HS results from a mutation in genes encoding 1 or more proteins in the erythrocyte membrane, which leads to a loss of membrane structure and dysfunction of the cell. The clinical spectrum of HS varies widely, leading to under-diagnosis during the neonatal period, and management differs from alloimmune hemolytic disorders.

Clinical findings: In this case report of a neonate with severe unconjugated hyperbilirubinemia due to HS.

Primary diagnosis: Severe unconjugated hyperbilirubinemia due to HS.

Interventions: Phototherapy and exchange transfusion.

Outcomes: Subsequent decrease in bilirubin levels and safe discharge of neonate with instructions to follow up with pediatrician, hematology, and genetics with outpatient appointments.

Practice recommendations: In this case report, we emphasize the need for a high index of suspicion among neonatal caregivers and discuss management options. We also discuss the lack of response to intravenous immunoglobulin as a diagnostic clue and the feasibility of performing exchange transfusion using peripheral intravenous access.

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