Abstract |
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.
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Authors | A A Langston, J E Sanders, H J Deeg, S W Crawford, C Anasetti, K M Sullivan, M E Flowers, R Storb |
Journal | British journal of haematology
(Br J Haematol)
Vol. 92
Issue 3
Pg. 758-65
(Mar 1996)
ISSN: 0007-1048 [Print] England |
PMID | 8616050
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Topics |
- Adult
- Anemia, Aplastic
(complications, therapy)
- Bone Marrow Transplantation
(methods)
- Child
- Child, Preschool
- Female
- Graft Survival
- Graft vs Host Disease
(etiology)
- Humans
- Keratosis
(complications, congenital)
- Lung Diseases
(etiology)
- Male
- Nail Diseases
(complications, congenital)
- Opportunistic Infections
(complications)
- Transplantation, Homologous
- Treatment Outcome
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