Haematopoietic cell transplantation for 106 infants and preschoolers with acquired and inherited bone marrow failures.

IF 5.1 2区医学 Q1 HEMATOLOGY

British Journal of Haematology Pub Date : 2024-10-27 DOI:10.1111/bjh.19831

Gisele Loth, Cilmara C K Dumke, Rafaella R Muratori, Polliany D Pelegrina, Carolina M A Peixoto, Juliana L M Bach, Samantha Nichele, Joanna P Trennepohl, Adriana Koliski, Rebeca T G Mousquer, Adriana M Rodrigues, Rafael Marchesini, Margareth K Feitosa, Daniela V Pilonetto, Lara Gouvea, Fernanda M L Benini, Emanuele S Pirolli, Rebeca A F Tutumi, Alberto C M Lima, Ricardo Pasquini, Carmem Bonfim

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引用次数: 0

Abstract

Aplastic anaemia in infants and young children presents unique challenges due to high prevalence of inherited bone marrow failure syndromes (IBMFS) in this age group. The objective of this study is assessing clinical characteristics and outcomes of haematopoietic cell transplantation in children ≤5 years with bone marrow failure syndromes. We analysied 106 patients (66% males), median age 4.6 years, including 40 with Fanconi anaemia (FA), 32 with Acquired Severe Aplastic anaemia (aSAA), 15 with Diamond-Blackfan Anaemia, 11 with Amegakaryocytic Purpura and 8 with other IBMFS. Molecular testing was limited (39%), with 25.4% confirmed genetically. Retrospective longitudinal study across three paediatric transplantation centres (1982-2020). Overall survival (OS) was 76.4% over a median 10-year follow-up. OS rates were similar between aSAA and IBMFS (FA 77.5%, other IBMFS 76.5%). Transplant-related mortality (TRM) was lower in aSAA (9.4%) compared with IBMFS (16.2%). Recent years showed improved outcomes, with TRM declining post-2010. Choice of stem cell source impacted OS, favouring bone marrow over umbilical cord, but showing encouraging results with haploidentical. Late complications were common, including endocrine-metabolic issues and delayed neuropsychomotor development. Diagnosing and managing bone marrow failures in young children pose significant challenges. Despite advancements in transplant practices, ongoing vigilance and comprehensive care are necessary to improve long-term survival rates.

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为 106 名患有获得性和遗传性骨髓衰竭的婴儿和学龄前儿童进行造血细胞移植。

由于遗传性骨髓衰竭综合征（IBMFS）在婴幼儿中的高发病率，婴幼儿再生障碍性贫血面临着独特的挑战。本研究旨在评估5岁以下骨髓衰竭综合征儿童造血细胞移植的临床特征和疗效。我们分析了106名患者（66%为男性），中位年龄为4.6岁，其中包括40名范可尼贫血（FA）患者、32名获得性重型再生障碍性贫血（aSAA）患者、15名钻石-贝克范贫血患者、11名巨核细胞紫癜患者和8名其他IBMFS患者。分子检测的比例有限（39%），其中 25.4% 得到了遗传学证实。三个儿科移植中心的回顾性纵向研究（1982-2020 年）。在中位 10 年的随访中，总生存率（OS）为 76.4%。aSAA和IBMFS的OS率相似（FA为77.5%，其他IBMFS为76.5%）。与IBMFS（16.2%）相比，aSAA的移植相关死亡率（TRM）较低（9.4%）。近几年的治疗效果有所改善，TRM在2010年后有所下降。干细胞来源的选择影响OS，骨髓比脐带更受欢迎，但单倍体干细胞的结果令人鼓舞。晚期并发症很常见，包括内分泌代谢问题和神经心理运动发育延迟。诊断和处理幼儿骨髓失败是一项重大挑战。尽管移植实践取得了进步，但要提高长期存活率，还需要持续的警惕和全面的护理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

British Journal of Haematology 医学-血液学

CiteScore

8.60

自引率

4.60%

发文量

565

审稿时长

1 months

期刊介绍： The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.