Chadha Manish, Singh Ajay Pal, Singh Arun Pal
Department of Orthopaedics, University College of Medical Sciences & Guru Teg Bahadur Hospital, Delhi, India.
Acta Orthop Belg. 2009 Dec;75(6):847-50.
Oncogenic Osteomalacia syndrome is associated with mesenchymal tumours, caused by a protein secreted from tumours which inhibits tubular renal phosphate absorption and reduces 1,25 dihydroxy vitamin-D renal conversion. It manifests as osteomalacia with hypophosphataemia and hyperphosphaturia. Association of neurofibromatosis with oncogenic osteomalacia is unusual. We report a rare case of oncogenic osteomalacia with generalized neurofibromatosis which presented to us as pathological fracture.
致癌性骨软化综合征与间充质肿瘤有关，由肿瘤分泌的一种蛋白质引起，该蛋白质抑制肾小管对磷酸盐的吸收并减少1,25-二羟基维生素D的肾脏转化。其表现为骨软化伴低磷血症和高磷尿症。神经纤维瘤病与致癌性骨软化的关联并不常见。我们报告了一例罕见的致癌性骨软化合并全身神经纤维瘤病的病例，该病例以病理性骨折的形式就诊于我们。
