Hodsman A B, Sherrard D J, Wong E G, Brickman A S, Lee D B, Alfrey A C, Singer F R, Norman A W, Coburn J W
Ann Intern Med. 1981 May;94(5):629-37. doi: 10.7326/0003-4819-94-5-629.
We describe a sporadic, vitamin-D-resistant osteomalacic syndrome in 19 patients undergoing hemodialysis. The syndrome was found in less than 1.5% of patients from referring dialysis centers. All 19 patients had multiple fractures, severe myopathy, and many developed spontaneous hypercalcemia. Severe osteomalacia without evidence of secondary hyperparathyroidism distinguished this syndrome from other forms of renal osteodystrophy. Bone aluminum, measured in six patients, was greatly elevated. Therapy with calcitriol (1 alpha, 25-dihydroxycholecalciferol) lad to clinical improvement in seven patients with reduced pain and myopathy, decreased serum alkaline phosphatase, or both, but no improvement in bone histology. Patients who did not respond clinically to calcitriol developed marked hypercalcemia. The cause of this severe osteomalacia, which occurs despite normal or slightly elevated levels of serum calcium and phosphorus and fails to mineralize with calcitriol, is unclear.
我们描述了19例接受血液透析患者中出现的一种散发性、维生素D抵抗性骨软化综合征。该综合征在转诊透析中心的患者中发现比例不到1.5%。所有19例患者均有多处骨折、严重肌病,许多患者出现自发性高钙血症。无继发性甲状旁腺功能亢进证据的严重骨软化症使该综合征有别于其他形式的肾性骨营养不良。对6例患者测量的骨铝含量大幅升高。使用骨化三醇(1α,25 - 二羟胆钙化醇)治疗使7例患者临床症状改善,疼痛减轻、肌病缓解,血清碱性磷酸酶降低,或两者均有改善,但骨组织学无改善。对骨化三醇无临床反应的患者出现明显高钙血症。尽管血清钙和磷水平正常或略升高,但仍发生这种严重骨软化症且不能通过骨化三醇矿化,其病因尚不清楚。