Loth Gisele, Dumke Cilmara C K, Muratori Rafaella R, Pelegrina Polliany D, Peixoto Carolina M A, Bach Juliana L M, Nichele Samantha, Trennepohl Joanna P, Koliski Adriana, Mousquer Rebeca T G, Rodrigues Adriana M, Marchesini Rafael, Feitosa Margareth K, Pilonetto Daniela V, Gouvea Lara, Benini Fernanda M L, Pirolli Emanuele S, Tutumi Rebeca A F, Lima Alberto C M, Pasquini Ricardo, Bonfim Carmem
Faculdades Pequeno Príncipe, Curitiba, Paraná, Brazil.
Bone Marrow Transplantation Unit, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
Br J Haematol. 2024 Dec;205(6):2387-2402. doi: 10.1111/bjh.19831. Epub 2024 Oct 27.
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.
由于该年龄组遗传性骨髓衰竭综合征（IBMFS）的高患病率，婴幼儿再生障碍性贫血呈现出独特的挑战。本研究的目的是评估5岁及以下骨髓衰竭综合征儿童造血细胞移植的临床特征和结局。我们分析了106例患者（66%为男性），中位年龄4.6岁，其中40例患有范可尼贫血（FA），32例患有获得性重度再生障碍性贫血（aSAA），15例患有先天性纯红细胞再生障碍性贫血，11例患有无巨核细胞性紫癜，8例患有其他IBMFS。分子检测有限（39%），25.4%经基因确诊。对三个儿科移植中心（1982 - 2020年）进行的回顾性纵向研究。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%）。近年来结局有所改善，2010年后TRM下降。干细胞来源的选择影响OS，骨髓优于脐带血，但单倍体造血干细胞移植也显示出令人鼓舞的结果。晚期并发症很常见，包括内分泌代谢问题和神经精神运动发育延迟。诊断和管理幼儿骨髓衰竭带来重大挑战。尽管移植实践取得了进展，但持续的警惕和全面的护理对于提高长期生存率是必要的。
