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婴儿早期镰状细胞病:一例报告

Sickle Cell Disease in Early Infancy: A Case Report.

作者信息

Muzazu Seke G Y, Chirwa Masuzyo, Khatanga-Chihana Shalom, Munyinda Masiliso, Simuyandi Michelo

机构信息

Enteric Disease and Vaccines Research Unit, Centre for Infectious Disease Research in Zambia (CIDRZ), Lusaka, Zambia.

出版信息

Pediatric Health Med Ther. 2022 Dec 13;13:377-383. doi: 10.2147/PHMT.S388147. eCollection 2022.

Abstract

Sickle cell disease (SCD) refers to a group of hereditary disorders that result in faulty hemoglobin carriage by the red blood cells. This paper discusses an atypical presentation of SCD in early infancy. Despite current literature suggesting protection by fetal hemoglobin in the first few months of life, we report a diagnosis of SCD at 2 months of age with severe symptoms requiring hospitalization. It is therefore important for clinicians to raise their clinical index of suspicion of SCD in children presenting with severe anemia even though they are less than 6 months old and do not present with classic dactylitis or pain syndromes. Expansion and sustained newborn screening programs for SCD in developing countries could help clinicians and parents plan for early treatment, appropriate prophylaxis, and improved management of SCD complications.

摘要

镰状细胞病(SCD)是指一组遗传性疾病,这些疾病会导致红细胞携带血红蛋白出现缺陷。本文讨论了SCD在婴儿早期的一种非典型表现。尽管目前的文献表明胎儿血红蛋白在生命的最初几个月具有保护作用,但我们报告了一例2个月大时被诊断为SCD的病例,其症状严重,需要住院治疗。因此,对于出现严重贫血的儿童,即使他们不到6个月大且没有典型的指(趾)炎或疼痛综合征,临床医生提高对SCD的临床怀疑指数也很重要。在发展中国家扩大并持续开展SCD新生儿筛查项目,有助于临床医生和家长规划SCD的早期治疗、适当预防以及改善并发症管理。

相似文献

1
Sickle Cell Disease in Early Infancy: A Case Report.婴儿早期镰状细胞病:一例报告
Pediatric Health Med Ther. 2022 Dec 13;13:377-383. doi: 10.2147/PHMT.S388147. eCollection 2022.
2
Sickle Cell Disease: A Review.镰状细胞病:综述。
JAMA. 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233.
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Newborn Screening for Sickle Cell Disease: Indian Experience.镰状细胞病的新生儿筛查:印度经验
Int J Neonatal Screen. 2018 Nov 13;4(4):31. doi: 10.3390/ijns4040031. eCollection 2018 Dec.

本文引用的文献

1
Newborn screening for sickle cell disease in Africa.非洲镰状细胞病的新生儿筛查。
Lancet Haematol. 2021 Jul;8(7):e476. doi: 10.1016/S2352-3026(21)00166-6.
2
Sickle cell disease: a comprehensive program of care from birth.镰状细胞病:从出生开始的全面护理计划。
Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):490-495. doi: 10.1182/hematology.2019000053.
8
Pathophysiology of Sickle Cell Disease.镰状细胞病的病理生理学。
Annu Rev Pathol. 2019 Jan 24;14:263-292. doi: 10.1146/annurev-pathmechdis-012418-012838. Epub 2018 Oct 17.

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