Hematopoietic Stem Cell Transplantation for Osteopetrosis

被引:36
作者
Steward, Colin G. [1 ,2 ]
机构
[1] Royal Hosp Sick Children, BMT Unit, Bristol BS2 8BJ, Avon, England
[2] Univ Bristol, Sch Med Sci, Dept Cellular & Mol Med, Bristol BS8 1TD, Avon, England
关键词
Osteopetrosis; Hematopoietic transplant; Hypocalcemia; Pulmonary hypertension; AUTOSOMAL RECESSIVE OSTEOPETROSIS; BONE-MARROW-TRANSPLANTATION; MALIGNANT INFANTILE OSTEOPETROSIS; SINGLE-CENTER EXPERIENCE; PULMONARY-HYPERTENSION; DIAGNOSIS; MUTATIONS; POOR; DOMINANT; MICE;
D O I
10.1016/j.pcl.2009.11.006
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Osteopetrosis is the generic name for a group of diseases caused by deficient formation or function of osteoclasts, inherited in either autosomal recessive or dominant fashion. Osteopetrosis varies in severity from a disease that may kill infants to an incidental radiological finding in adults. It is increasingly clear that prognosis is governed by which gene is affected, making detailed elucidation of the cause of the disease a critical component of optimal care, including the decision on whether hematopoietic stem cell transplantation is appropriate. This article reviews the characteristics and management of osteopetrosis.
引用
收藏
页码:171 / +
页数:11
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