PDF(Pubmed)
Abstract：
Camurati-Engelmann Disease (CED) is a rare sclerosing bone disease, sometimes associated delayed puberty. The treatment effect of glucocorticoid and angiotensin II receptor blocker (ARB) in bone health and puberty development remain unclear. We report a case of an 18-year-old girl who presented for a history of an enlarged head, pain of lower limbs, and no menstrual onset or breast development. Radiographs revealed thickening of skull and cortices in the diaphysis but sparse bone trabeculae in the spine and metaphysis. Sanger sequencing detected a mutation of c. 652C>T (p. R218C) in the gene TGFB1 and confirmed the diagnosis of CED. After treatment of a medium-to-small dosage of prednisone and losartan for 28 months, we observed improvement of bone mass in spine and hip and body fat mass and found initiation of puberty development. By a systemic review of current treatment strategies in patients with CED, we found that most cases reported relief of bone pain with treatment of glucocorticoid or ARB, but none has reported the outcome of hypogonadotropic hypogonadism. We propose that long-term use of glucocorticoid combined with ARB may inhibit the activation of TGFβ1 in CED, improve adipogenesis, and thus initiate puberty development and improve the bone mass in spine and hip.
摘要：
Camurati-Engelmann病（CED）是一种罕见的骨硬化性疾病，有时与青春期延迟有关。糖皮质激素和血管紧张素II受体阻滞剂（ARB）在骨骼健康和青春期发育中的治疗效果尚不清楚。我们报道了一个18岁女孩的病例，她有头部增大的病史，下肢疼痛,没有月经或乳房发育。射线照片显示骨干中的头骨和皮质增厚，但脊柱和干phy端中的骨小梁稀疏。Sanger测序检测到c的突变。652C>T（p。R218C)基因中的TGFB1并证实了CED的诊断。中、小剂量泼尼松和氯沙坦治疗28个月后，我们观察到脊柱和髋骨量和身体脂肪量的改善，并发现青春期发育的开始。通过对CED患者当前治疗策略的系统回顾，我们发现大多数病例报告通过糖皮质激素或ARB治疗可以缓解骨痛，但是没有报道过低促性腺激素性性腺功能减退的结果。我们认为长期使用糖皮质激素联合ARB可能抑制CED中TGFβ1的活化，改善脂肪生成，从而启动青春期发育并改善脊柱和髋关节的骨量。
