婴儿恶性骨硬化症的成功骨髓移植

Successful bone-marrow transplantation for infantile malignant osteopetrosis.

作者信息

Coccia P F, Krivit W, Cervenka J, Clawson C, Kersey J H, Kim T H, Nesbit M E, Ramsay N K, Warkentin P I, Teitelbaum S L, Kahn A J, Brown D M

出版信息

N Engl J Med. 1980 Mar 27;302(13):701-8. doi: 10.1056/NEJM198003273021301.

DOI:10.1056/NEJM198003273021301

PMID:6986555

Abstract

A five-month-old girl with autosomal-recessive osteopetrosis received a bone-marrow transplant from her five-year-old HLA-MLC-identical brother after preparation with cyclophosphamide and modified total-body irradiation. Engraftment was documented by chromosomal analysis. Anemia, thrombocytopenia, and leukoerythroblastosis corrected within 12 weeks of transplantation. Low serum calcium and elevated serum alkaline and acid phosphatase levels became normal. Serial x-ray studies revealed bony remodeling and new nonsclerotic bone formation. A pretransplantation bone biopsy revealed small marrow spaces, rare marrow elements, increased osteoclasts, and no bony resorption. After transplantation, osteoclasts were actively resorbing bone, and medullary cavities contained normal bone marrow. Fluorescent Y-body analysis after transplantation revealed donor (male) osteoclasts and recipient (female) osteoblasts. Monocyte bactericidal activity, markedly decreased before transplantation, became normal. Vision, hearing, growth, and development were progressively improving 16 months after transplantation. Allogeneic bone-marrow transplantation appears to be the treatment of choice in this fatal disorder.

摘要

一名患有常染色体隐性骨硬化症的5个月大女童，在接受环磷酰胺和改良全身照射预处理后，接受了来自其5岁、HLA-MLC相同的哥哥的骨髓移植。通过染色体分析证实了植入情况。贫血、血小板减少症和幼稚粒-幼红细胞血症在移植后12周内得到纠正。低血钙以及血清碱性磷酸酶和酸性磷酸酶水平升高恢复正常。系列X线研究显示有骨质重塑和新的非硬化性骨形成。移植前的骨活检显示骨髓腔小、骨髓成分稀少、破骨细胞增多且无骨质吸收。移植后，破骨细胞积极地进行骨质吸收，髓腔内含有正常骨髓。移植后的荧光Y体分析显示有供体（男性）破骨细胞和受体（女性）成骨细胞。移植前明显降低的单核细胞杀菌活性恢复正常。移植16个月后，视力、听力、生长和发育逐渐改善。同种异体骨髓移植似乎是这种致命疾病的首选治疗方法。