Langston A A, Sanders J E, Deeg H J, Crawford S W, Anasetti C, Sullivan K M, Flowers M E, Storb R
Fred Hutchinson Cancer Research Center, Seattle, Washington 98118, USA.
Br J Haematol. 1996 Mar;92(3):758-65. doi: 10.1046/j.1365-2141.1996.424984.x.
Eight patients with aplastic anaemia associated with dyskeratosis congenita received allogeneic marrow grafts from either HLA-identical siblings (six patients) or HLA-matched unrelated donors (two patients). Patients who received marrow from HLA-identical siblings were conditioned with cyclophosphamide (140-200 mg/kg), with or without antithymocyte globulin. Patients who received unrelated donor marrow were conditioned with cyclophosphamide (120 mg/kg) and total body irradiation (1200 cGy). The six patients who survived for >2 weeks following transplant all had haematological evidence of engraftment, and all three patients who survived for at least a year following transplant recovered normal haematological function. Three patients died with respiratory failure and pulmonary fibrosis at 70 d. 8 years and 20 years posttransplant; three patients died during the neutropenic period of invasive fungal infections; one patient died on day 44 of refractory acute graft-versus-host disease; and one patient remains alive 463 d following transplant. The surviving patient recently underwent surgical resection of a Dukes' stage C rectal carcinoma diagnosed 14 months posttransplant. The aplastic anaemia associated with dyskeratosis congenita can be successfully treated by allogeneic bone marrow transplantation; however, this approach does not reverse the other systemic manifestations of the syndrome. The pathogenesis of the intestinal lung disease observed in dyskeratosis congenita patients following marrow transplantation is not understood.
8例患有先天性角化不良相关性再生障碍性贫血的患者接受了来自 HLA 相同同胞（6例患者）或 HLA 匹配的无关供者（2例患者）的异基因骨髓移植。接受 HLA 相同同胞骨髓的患者用环磷酰胺（140 - 200 mg/kg）进行预处理，可联合或不联合抗胸腺细胞球蛋白。接受无关供者骨髓的患者用环磷酰胺（120 mg/kg）和全身照射（1200 cGy）进行预处理。移植后存活超过2周的6例患者均有造血植入的血液学证据，移植后存活至少1年的3例患者恢复了正常的血液学功能。3例患者分别在移植后70天、8年和20年死于呼吸衰竭和肺纤维化；3例患者在中性粒细胞减少期死于侵袭性真菌感染；1例患者在难治性急性移植物抗宿主病的第44天死亡；1例患者在移植后463天仍存活。该存活患者最近接受了移植后14个月诊断出的 Dukes C 期直肠癌的手术切除。先天性角化不良相关性再生障碍性贫血可通过异基因骨髓移植成功治疗；然而，这种方法并不能逆转该综合征的其他全身表现。骨髓移植后先天性角化不良患者中观察到的肠道肺部疾病的发病机制尚不清楚。
