Lebel Ehud, Phillips Mici, Elstein Deborah, Zimran Ari, Itzchaki Menachem
Department of Orthopaedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel.
Acta Orthop. 2009 Apr;80(2):201-4. doi: 10.3109/17453670902930032.
Gaucher disease is heterogeneous. One of the most devastating complications is bone involvement, ranging from mild osteopenia to osteonecrosis, but no markers have been discovered to predict onset and/or progression. We describe our experience in a large referral center using drilling for juxta-articular osteonecrosis in young patients with Gaucher disease.
We retrospectively reviewed medical data from all patients who were recommended to undergo drilling for osteonecrosis of juxta-articular bone of the femoral head, the humeral head, or upper tibia for acute osteonecrosis at a pre-collapse stage.
11 patients (mean age 34 years) underwent drilling of 12 joints with juxta-articular osteonecrosis; 3 (mean age 51 years) refused intervention. 9 joints that were drilled showed advancing joint degeneration within 0.5 to 4 years. 3 joints have undergone replacement. Of the 3 joints that did not undergo drilling, 2 have undergone replacement and 1 has collapsed with osteoarthritis.
We found equally poor outcome with and without drilling. Effective intervention can only be achieved by improving our understanding of bone physiology and pathophysiology in Gaucher disease.
戈谢病具有异质性。最具破坏性的并发症之一是骨骼受累，范围从轻度骨质减少到骨坏死，但尚未发现可预测发病和/或进展的标志物。我们描述了在一家大型转诊中心对戈谢病年轻患者的关节周围骨坏死进行钻孔治疗的经验。
我们回顾性分析了所有因股骨头、肱骨头或胫骨近端关节周围骨急性坏死且处于塌陷前期而被建议进行钻孔治疗的患者的医疗数据。
11例患者（平均年龄34岁）接受了12个关节周围骨坏死的钻孔治疗；3例患者（平均年龄51岁）拒绝干预。接受钻孔治疗的9个关节在0.5至4年内出现了关节退变进展。3个关节已进行置换。在未接受钻孔治疗的3个关节中，2个已进行置换，1个已因骨关节炎而塌陷。
我们发现钻孔治疗与未钻孔治疗的结果同样不佳。只有通过增进对戈谢病骨生理学和病理生理学的理解，才能实现有效的干预。
