造血干细胞移植治疗新生儿严重联合免疫缺陷和严重血友病a: 1例报告和文献复习

IF 3.4 3区医学 Q2 HEMATOLOGY

Research and Practice in Thrombosis and Haemostasis Pub Date : 2025-03-01 DOI:10.1016/j.rpth.2025.102842

Sarah Schober , Michaela Döring , Peter Lang , Johannes Schulte , Martin Olivieri , Vanya Icheva

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引用次数: 0

摘要

严重联合免疫缺陷（SCID）和严重血友病A是两种罕见且可能危及生命的先天性疾病。这些疾病的巧合至今未见报道。我们报告了首例新生儿同时患这两种疾病的病例。SCID可以通过造血干细胞移植（HSCT）治疗。然而，如何在强化HSCT治疗中成功地处理新生儿重症血友病a是本病例报告的关键临床问题。临床方法：HSCT期间预防性因子(F)VIII替代使用延长半衰期的FVIII产品（efmoroctocog alfa）。血小板计数是影响FVIII剂量的主要因素。在个体化治疗期间，未发生出血并发症或FVIII抑制剂。结论：这是首例新生儿同时患有SCID和严重血友病a的病例报告。在这种情况下，如果采用FVIII单独替代方案，HSCT是可行的，没有出血并发症。

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Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature

Background

Severe combined immunodeficiency (SCID) and severe hemophilia A are 2 rare and potentially life-threatening congenital diseases. The coincidence of these diseases has not been reported so far.

Key Clinical Question

We present the first case of a newborn with both diseases. SCID can be treated with hematopoietic stem cell transplantation (HSCT). However, how to successfully manage a newborn with severe hemophilia A during intensive HSCT treatment is the key clinical question of this case report.

Clinical Approach

Prophylactic factor (F)VIII substitution during HSCT was performed with an extended half-life FVIII product (efmoroctocog alfa). The platelet count was a major factor influencing the dosage of FVIII. No bleeding complications or FVIII inhibitors occurred during this individualized management.

Conclusion

This is the first case report of a newborn suffering from both SCID and severe hemophilia A. HSCT is feasible in this situation without bleeding complications if an individual substitution regimen with FVIII is applied.

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