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骨髓移植治疗小儿骨髓增生异常综合征后的免疫抑制状态导致的后遗症

Resulting Sequelae of an Immunosuppressive State in a Pediatric Patient Status Post Bone Marrow Transplant for the Curative Management of Myelodysplastic Syndrome.

作者信息

D'Arpa Emily, Honeycutt Margaret, Bhagtani Harsha

机构信息

Department of Pediatrics, Edward Via College of Osteopathic Medicine, Blacksburg, USA.

Pediatrics, Clinch Valley Physician Practices, Cedar Bluff, VA, USA.

出版信息

Cureus. 2025 May 1;17(5):e83318. doi: 10.7759/cureus.83318. eCollection 2025 May.

Abstract

Myelodysplastic syndrome is a clonal disorder of hematopoietic stem cells leading to dysplasia and ineffective hematopoiesis. The typical presentation is asymptomatic with incidental lab findings consistent with varying degrees of pancytopenia. This syndrome is commonly diagnosed in older individuals and tends to result from chemical and/or radiation exposures; however, this patient presents as a unique manifestation of myelodysplastic syndrome in a six-month-old male. For curative management, the patient had an initial haploidentical hematopoietic stem cell transplant, followed by another, due to early graft rejection. In the following years leading to the present time, the patient has had complications due to a persistent immunodeficient state. He has been evaluated and managed for seizures, anemia, chemotherapy-induced cardiomyopathy, hypogammaglobinemia, failure to thrive, recurrent infections, graft versus host disease, malnutrition, and hypertransaminasemia with hepatosplenomegaly. He has had resolution of his cardiomyopathy and seizures but continues to manage his persistent immunodeficiencies, hepatomegaly, and slow weight gain. It is hard to discern if the multitude of dysfunctions arises from pharmacologically induced immunodeficiency, from parental and environmental neglect, if the manifestations compounded one another, or if the above factors combined to create the unique constellation of clinical manifestations. This patient provides insight into the complexities associated with understanding unique manifestations in dysplastic and oncological conditions, as well as managing complications arising from treatment. This case raises awareness of medical complications in the context of parental neglect and the importance of managing them both. The authors received consent from the patient's guardian to use their data for this report.

摘要

骨髓增生异常综合征是一种造血干细胞的克隆性疾病,可导致发育异常和无效造血。典型表现为无症状,偶然的实验室检查结果与不同程度的全血细胞减少相符。该综合征常见于老年人,往往由化学物质和/或辐射暴露引起;然而,该患者表现为一名6个月大男性骨髓增生异常综合征的独特表现。为进行根治性治疗,患者最初接受了单倍体相合造血干细胞移植,由于早期移植物排斥反应,随后又进行了一次移植。在随后直至目前的几年里,患者因持续的免疫缺陷状态出现了并发症。他接受了癫痫、贫血、化疗引起的心肌病、低丙种球蛋白血症、生长发育迟缓、反复感染、移植物抗宿主病、营养不良以及伴有肝脾肿大的高转氨酶血症的评估和治疗。他的心肌病和癫痫已得到缓解,但仍需应对持续的免疫缺陷、肝肿大和体重增长缓慢的问题。很难判断众多功能障碍是由药物诱导的免疫缺陷引起的,是由于父母和环境忽视,是这些表现相互叠加,还是上述因素共同导致了独特的临床表现组合。该患者为理解发育异常和肿瘤疾病中的独特表现以及处理治疗引起的并发症的复杂性提供了见解。该病例提高了对父母忽视背景下医疗并发症的认识以及管理这些并发症的重要性。作者获得了患者监护人同意将其数据用于本报告。

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Pediatric myelodysplastic syndrome.小儿骨髓增生异常综合征
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The Impact of Adverse Childhood Experiences on Health and Development in Young Children.童年不良经历对幼儿健康与发展的影响。
Glob Pediatr Health. 2022 Feb 26;9:2333794X221078708. doi: 10.1177/2333794X221078708. eCollection 2022.

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