Atay A Avni, Kurekci A Emin, Azik Fatih Mehmet, Gulgun Mustafa, Yavuz Tolga, Ozcan Okan
Department ofPediatric Hematology, Gulhane Military Medical Academy, Ankara, Turkey.
J Pediatr Endocrinol Metab. 2009 Dec;22(12):1179-83. doi: 10.1515/jpem.2009.22.12.1179.
Osteopetrorickets is a rare autosomal recessive disorder of osteoclast function characterized by abnormally dense bone and failure of resorption of calcified cartilage. Rickets is a paradoxical complication of osteopetrosis, resulting from the inability of the osteoclasts to maintain a normal calcium-phosphorus balance in the extracellular fluid. We report a patient with an unusual case of infantile osteopetro-rickets who was admitted with anterior fontanel bulging and was treated with haploidentical bone marrow transplantation.
骨质石化性佝偻病是一种罕见的常染色体隐性破骨细胞功能障碍疾病，其特征为骨密度异常增高以及钙化软骨吸收障碍。佝偻病是骨质石化症的一种矛盾性并发症，是由于破骨细胞无法维持细胞外液中正常的钙磷平衡所致。我们报告了一例婴儿型骨质石化性佝偻病的罕见病例，该患儿因前囟膨隆入院，并接受了单倍体相合骨髓移植治疗。
