Grewal Simran, Kilic Özgür, Savci-Heijink C Dilara, Kloen Peter
Department of Orthopaedic Surgery, Amsterdam University Medical Centers, Amsterdam Movement Sciences, the Netherlands.
Department of Pathology, Amsterdam University Medical Centers, the Netherlands.
J Orthop. 2019 Apr 15;16(5):373-377. doi: 10.1016/j.jor.2019.03.022. eCollection 2019 Sep-Oct.
Pycnodysostosis is an autosomal recessive disease caused by a gene mutation leading cathepsin K deficiency. Pathological fractures of the long bones are common, but guidelines on fracture treatment in these patients are still lacking. We have treated 5 fractures in 2 pediatric pycnodysostosis patients. We hypothesize that pycnodysostosis patients have an incomplete remodeling process in fracture healing because of cathepsin K deficiency. Therefore, to minimize the role of endochondral bone formation (indirect) after a fracture, it seems prudent to strive for direct bone healing (intramembranous) instead of indirect bone healing. Open reduction with internal fixation should be the goal.
致密性成骨不全症是一种由基因突变导致组织蛋白酶K缺乏引起的常染色体隐性疾病。长骨病理性骨折很常见，但针对这些患者骨折治疗的指南仍然缺乏。我们治疗了2例儿童致密性成骨不全症患者的5处骨折。我们推测，由于组织蛋白酶K缺乏，致密性成骨不全症患者在骨折愈合过程中存在不完全重塑过程。因此，为了尽量减少骨折后软骨内骨形成（间接）的作用，争取直接骨愈合（膜内）而非间接骨愈合似乎更为谨慎。切开复位内固定应作为目标。
