tailieunhanh - Báo cáo y học: " Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. | Nair et al. Journal of Medical Case Reports 2011 5 216 http content 5 1 216 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy a case report 1 1 1 1 2 3 Velu Nair Satyaranjan Das Ajay Sharma Sanjeevan Sharma Jasmeet Kaur and DK Mishra Abstract Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However in patients with Duchenne muscular dystrophy stem cell therapy still remains experimental. Case presentation We report the case of a nine-year-old boy of north Indian descent with Diamond-Blackfan anemia and Duchenne muscular dystrophy who underwent successful allogeneic hematopoietic stem cell transplantation. He is transfusion-independent and his Duchenne muscular dystrophy has shown no clinical deterioration over the past 45 months. His creatine phosphokinase levels have significantly decreased to 300 U L from 14 000 U L pre-transplant. The patient is 100 donor chimera in the hematopoietic system and his muscle tissue has shown 8 to cells of donor origin. Conclusion Our patient s Diamond-Blackfan anemia was cured by allogeneic hematopoietic stem cell transplantation. The interesting clinical observation of a possible benefit in Duchenne muscular dystrophy cannot be ruled out. However further clinical follow-up with serial muscle biopsies and molecular studies are needed to establish this finding. Introduction Diamond-Blackfan anemia DBA is a rare congenital hypoplastic anemia that usually presents in infancy and childhood. The incidence of DBA is five to 10 per one million births and more than 600 cases have been reported worldwide. The exact cause is unclear but the problem is a .