使用白消安和氟达拉滨进行预处理，成功地为一名患有嘌呤核苷磷酸化酶缺乏症的患者进行了 HLA 配型相合的骨髓移植。

Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning.

作者信息

Classen C F, Schulz A S, Sigl-Kraetzig M, Hoffmann G F, Simmonds H A, Fairbanks L, Debatin K M, Friedrich W

机构信息

University Children's Hospital Ulm, Ulm, Germany.

出版信息

Bone Marrow Transplant. 2001 Jul;28(1):93-6. doi: 10.1038/sj.bmt.1703100.

DOI:10.1038/sj.bmt.1703100

PMID:11498751

Abstract

PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including ataxia, developmental delay and spasticity. Patients usually die in the first or second decade of life due to recurrent infections. The only curative treatment is bone marrow transplantation (BMT). We describe a 22-month-old girl who underwent BMT from her HLA-identical brother. Conditioning consisted of busulfan and fludarabine only, resulting in low toxicity and prompt engraftment. At 18 months after BMT, the girl has developed normal immunological functions, and her neurological status has improved.

摘要

嘌呤核苷磷酸化酶（PNP）缺乏症是一种常染色体隐性代谢紊乱疾病，其特征为严重的联合免疫缺陷以及包括共济失调、发育迟缓与痉挛状态在内的复杂神经症状。患者通常因反复感染在生命的第一个或第二个十年内死亡。唯一的治愈性治疗方法是骨髓移植（BMT）。我们描述了一名22个月大的女孩，她接受了来自其 HLA 配型相同的哥哥的骨髓移植。预处理仅包括白消安和氟达拉滨，毒性较低且造血干细胞迅速植入。骨髓移植后18个月，该女孩已具备正常的免疫功能，其神经状态也有所改善。