Shen Guohua, Zhang Yuwei, Hu Shuang, Liu Bin, Kuang Anren
Department of Nuclear Medicine, West China Hospital of Sichuan University Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.
Medicine (Baltimore). 2017 Mar;96(13):e6493. doi: 10.1097/MD.0000000000006493.
Hypophosphatemic osteomalacia (HO) is a metabolic bone disease, exhibiting different etiologies such as genetic mutation, tumor induction, dysimmunity, or renal disease. Sjogren's syndrome (SS) is a connective tissue disorder commonly involving exocrine glands; however kidney involvement is also encountered, leading to abnormal phosphorus metabolism, even HO.
A 47-year-old female patient presented progressively worsening pain in the chest wall, back and bilateral lower extremities as well as muscle weakness was referred to our department.
DIAGNOSES, INTERVENTIONS AND OUTCOMES: Due to the laboratory test results, radiographic findings and pathologic results, she was diagnosed with adult-onset HO associated with SS. She was then treated with alkalinization, steroids, neutral phosphate, calcium supplements together with activated vitamin D. So far, she recovered uneventfully with relieved pain and increased serum phosphorus level.
HO may be secondary to renal tubular acidosis of SS patients, and it might be a diagnostic challenge when the kidney involvement in SS is latent and precede the typical sicca symptoms.
低磷性骨软化症(HO)是一种代谢性骨病,具有多种病因,如基因突变、肿瘤诱导、免疫功能紊乱或肾脏疾病。干燥综合征(SS)是一种常见的累及外分泌腺的结缔组织疾病;然而,肾脏受累也较为常见,可导致磷代谢异常,甚至引发低磷性骨软化症。
一名47岁女性患者因胸壁、背部及双侧下肢进行性加重的疼痛以及肌肉无力前来我院就诊。
诊断、干预及结果:根据实验室检查结果、影像学表现及病理结果,她被诊断为成人型低磷性骨软化症合并干燥综合征。随后,她接受了碱化、类固醇、中性磷酸盐、钙剂及活性维生素D联合治疗。目前,她已顺利康复,疼痛缓解,血清磷水平升高。
低磷性骨软化症可能继发于干燥综合征患者的肾小管酸中毒,当干燥综合征患者肾脏受累隐匿且早于典型的口干症状出现时,可能构成诊断挑战。