Two natural pregnancies following allogeneic transplantation for Fanconi anaemia
Two natural pregnancies following allogeneic transplantation for Fanconi anaemia
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范可尼贫血同种异体移植后两次自然妊娠
DOI：
10.1111/j.1365-2141.2007.06828.x
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发表时间：
2007
影响因子：
6.5
通讯作者：
J. Snowden
中科院分区：
文献类型：
--
作者：
E. Morris;P. Darbyshire;F. Fairlie;C. Dalley;J. Snowden
在文献中很少有关于范可尼贫血（FA）的异基因移植后成功妊娠的报道。尽管条件反射减弱，但移植仍会引起显著的生殖细胞损伤，通常被认为会诱发继发性不孕。Goi等人（2006）最近报告了1例19岁的月经过多患者，随后发现由于FA导致全血细胞减少。她接受了她的人类白细胞抗原（HLA）匹配的姐姐的同种异体移植，并在移植后6个月重新开始月经规律。她在移植后48个月自然受孕，并生下了一个健康的孩子。描述的另一个病例是一名FA患者，在17岁时从其HLA匹配的兄弟姐妹移植而来（Dalle et al，2004）。该患者在11岁时经历了自发性月经初潮，随后是规律的月经。移植后18个月，继发性闭经明显，但目前尚不清楚是什么替代治疗。她随后进行了两次自然怀孕，并生下了两个健康的孩子。我们报告一名女性患者最初诊断为FA年龄8岁。她接受了来自她10岁同胞的HLA匹配的异基因骨髓移植，条件是环磷酰胺20 mg/kg总剂量，全身照射（TBI）超过4天（4戈伊总剂量）和抗胸腺细胞球蛋白（60 mg/kg总剂量）。手术耐受性非常好，她没有发生移植物抗宿主病。她在12岁时自发进入青春期，月经周期正常。她在移植后13年和16年自然怀孕，并在与我们机构的晚期效应和产科诊所合作监测的无并发症妊娠后分娩了两个健康的孩子。显然，尽管移植和生殖专家可能怀有重大疑虑，成功的自然妊娠是现实的FA患者异基因造血移植后，即使使用清髓性（含TBI）预处理。值得注意的是，这是第一次报告成功怀孕的患者与FA移植在青春期前的生育能力。我们建议FA移植患者应适当咨询有关计划生育和避孕，最好在多学科后期效应诊所进行管理。
There are very few reports in the literature of successful pregnancy following allogeneic transplantation for Fanconi anaemia (FA). Despite attenuation of conditioning, transplantation causes significant germ cell injury and is generally considered to induce secondary infertility. Goi et al (2006) recently reported a patient presenting with menorrhagia aged 19 years, subsequently found to be pancytopenic due to FA. She received an allogeneic transplantation from her human leukocyte antigen (HLA)-matched sister and re-started regular menstruation at 6 months post-transplant. She went on to conceive naturally 48 months post-transplant and delivered a healthy child. The one other case described is of a patient with FA transplanted from her HLA-matched sibling at aged 17 years (Dalle et al, 2004). The patient had experienced spontaneous menarche aged 11 years, followed by regular periods. Secondary amenorrhoea was evident by 18 months post-transplant, although it is unclear what replacement therapy was instigated. She subsequently carried two natural pregnancies and delivered two healthy children. We report a female patient initially diagnosed with FA aged 8 years. She underwent HLA-matched allogeneic bone marrow transplantation from her sibling aged 10 years, conditioned with Cyclophosphamide 20 mg/kg total dose, total body irradiation (TBI) over 4 d (4 Gy total dose) and antithymocyte globulin (60 mg/kg total dose). The procedure was tolerated extremely well and she did not develop graft-versus-host disease. She entered puberty spontaneously aged 12 years with normal menstrual cycles. She became pregnant naturally 13 years and 16 years post-transplant and delivered two healthy children after uncomplicated pregnancies monitored in collaboration with the Late Effects and Obstetric clinics at our institution. Clearly, despite the significant doubts that transplant and reproductive specialists may harbour, successful natural pregnancy is realistic in patients with FA following allogeneic haemopoietic transplantation, even when myeloablative (TBIcontaining) conditioning is used. Significantly, this is the first report of successful pregnancies in a patient with FA transplanted in the pre-pubertal period with preservation of fertility. We recommend patients transplanted for FA should be appropriately counselled in relation to family planning and contraception, and ideally managed within a multidisciplinary Late Effects clinic.