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Abstract：
Recent advances in diagnosis and treatment of inherited bone marrow failure syndromes (IBMFS) have significantly improved disease understanding and patient outcomes. Still, IBMFS present clinical challenges that require further progress. This review aims to provide an overview of the current state of diagnosis and treatment modalities of the major IBMFS seen in paediatrics and present areas of prioritization for future research.
Haematopoietic cell transplantation (HCT) for IBMFS has greatly improved in recent years, shifting the research and clinical focus towards cancer predispositions and adverse effects of treatment. Each year, additional novel genes and pathogenic variants are described, and genotype-phenotype mapping becomes more sophisticated. Moreover, novel therapeutics exploring disease-specific mechanisms show promise to complement HCT and treat patients who cannot undergo current treatment options.
Research on IBMFS should have short-term and long-term goals. Immediate challenges include solidifying diagnostic and treatment guidelines, cancer detection and treatment, and continued optimization of HCT. Long-term goals should emphasize genotype-phenotype mapping, genetic screening tools and gene-targeted therapy.
Haematopoietic cell transplantation (HCT) for IBMFS has greatly improved in recent years, shifting the research and clinical focus towards cancer predispositions and adverse effects of treatment. Each year, additional novel genes and pathogenic variants are described, and genotype-phenotype mapping becomes more sophisticated. Moreover, novel therapeutics exploring disease-specific mechanisms show promise to complement HCT and treat patients who cannot undergo current treatment options.
Research on IBMFS should have short-term and long-term goals. Immediate challenges include solidifying diagnostic and treatment guidelines, cancer detection and treatment, and continued optimization of HCT. Long-term goals should emphasize genotype-phenotype mapping, genetic screening tools and gene-targeted therapy.
摘要：
目的：遗传性骨髓衰竭综合征（IBMFS）的诊断和治疗的最新进展已显著改善了对疾病的认识和患者的预后。尽管如此，IBMFS提出了需要进一步进展的临床挑战。这篇综述旨在概述儿科中主要IBMFS的诊断和治疗方式的现状，以及未来研究的优先领域。
结果：近年来用于IBMFS的造血细胞移植（HCT）有了很大的改善，将研究和临床重点转向癌症易感性和治疗的不良反应。每一年,描述了其他新基因和致病变异，和基因型-表型作图变得更加复杂。此外，探索疾病特异性机制的新疗法有望补充HCT并治疗无法接受当前治疗方案的患者.
结论：对IBMFS的研究应该有短期和长期目标。当前的挑战包括巩固诊断和治疗指南，癌症检测和治疗，并继续优化HCT。长期目标应强调基因型-表型作图，基因筛选工具和基因靶向治疗。
结果：近年来用于IBMFS的造血细胞移植（HCT）有了很大的改善，将研究和临床重点转向癌症易感性和治疗的不良反应。每一年,描述了其他新基因和致病变异，和基因型-表型作图变得更加复杂。此外，探索疾病特异性机制的新疗法有望补充HCT并治疗无法接受当前治疗方案的患者.
结论：对IBMFS的研究应该有短期和长期目标。当前的挑战包括巩固诊断和治疗指南，癌症检测和治疗，并继续优化HCT。长期目标应强调基因型-表型作图，基因筛选工具和基因靶向治疗。
