低血磷的病可引起多种骨关节症状,其罕见的表现之一是骶髂关节受累,这可能被误认为是炎症性脊柱炎。这里,我们报道了一个31岁的非洲裔美国女性,她有两年的下背部疼痛和晨僵病史,最初怀疑是由于炎性脊柱关节炎。实验室检查显示炎症标志物阴性,血清钙正常,维生素D3和甲状旁腺激素水平;然而,碱性磷酸酶水平升高,血清磷水平较低。腰骶椎的磁共振成像(MRI)显示骶髂关节轻度增宽伴关节周围硬化,无骨炎或骨髓水肿的征象。她的病情归因于已知的X连锁低磷酸盐血症病的诊断,影响了她的骶髂关节。经物理治疗保守治疗后症状逐渐好转,非甾体抗炎药,磷酸盐,和维生素D补充剂。根据我们的文献综述,我们只遇到过五例类似的病病例。两名患者在15岁和35岁时以前未被诊断为低磷酸盐血症病。一例与缺乏维生素D的病有关,最后两例为成人起病的维生素D抵抗病,误诊为强直性脊柱炎。这些病例中骶髂关节受累的放射学征象包括骶髂关节狭窄,骶髂关节融合,软骨下低信号变化,和软骨表面不规则。补充维生素D显著降低了病的发病率;然而,仍然有家族性病的病例可以表现出各种症状,包括与炎性脊柱炎一致的体征和症状,如果无法识别这种表现,很容易被误诊或误治。
Hypophosphatemic
rickets can cause a variety of bone and joint symptoms, one of its rare presentations is sacroiliac joint involvement, which may be mistaken for inflammatory spondylitis. Here, we report the case of a 31-year-old African American woman who presented with a two-year history of lower back pain and morning stiffness, initially suspected to be due to inflammatory spondyloarthritis. Laboratory tests revealed negative inflammatory markers, normal serum calcium, vitamin D3, and parathyroid hormone levels; however, the alkaline phosphatase levels were elevated and serum phosphorus level was low. Magnetic resonance imaging (MRI) of the lumbosacral spine revealed mild widening of the sacroiliac joint with periarticular sclerosis with no signs of osteitis or bone marrow edema. Her condition was attributed to a known diagnosis of X-linked hypophosphatemic
rickets affecting her sacroiliac joints. Her symptoms gradually improved after conservative treatment with physical therapy, nonsteroidal anti-inflammatory drugs, phosphate, and vitamin D supplementations. Based on our literature
review, we have come across only five
rickets cases with similar presentations. Two patients had previously undiagnosed hypophosphatemic
rickets at 15 and 35 years of age. One case was related to vitamin D-deficient rickets, and the final two cases were adult-onset vitamin D-resistant
rickets misdiagnosed as ankylosing spondylitis. Radiological signs of sacroiliac joint involvement in these cases include narrowing of the sacroiliac joints, fusion of the sacroiliac joints, subchondral hypointense signal changes, and chondral surface irregularities. Vitamin D supplementation has significantly reduced the incidence of rickets; however, there are still cases of familial rickets that can present with a variety of symptoms, including signs and symptoms consistent with inflammatory spondylitis, which can be easily misdiagnosed or mistreated if this presentation is not recognized.