低磷骨软化症的3例报告并文献复习

Clinical diagnosis and treatment of three cases of hypophosphatemic osteomalacia and literature review

目的分析3例低磷骨软化症患者的临床资料特点并进行文献复习,以提高临床医师对该类罕见疾病的诊疗水平。方法总结本院2017年3月至2017年8月收治的3例低磷骨软化症患者的住院病史、生化检验、影像学资料以及随访转归结果,查阅2005-2018年万方数据库、CNKI数据库及PubMed数据库的相关病例报道并进行文献复习,分析此3例患者低磷血症的病因并进行讨论。结果 3例低磷骨软化症患者均有长病程的肌肉骨骼疼痛,但早期就诊时曾误诊为其他疾病。化验均提示重度低磷血症、尿磷增多,骨源性碱性磷酸酶明显升高,其中1例患者骨密度正常,另2例患者均有重度骨质疏松。1例患者通过影像学检查明确了病因为肿瘤,切除病灶后好转;1例患者经过长期随访,考虑由抗乙肝病毒药物恩替卡韦导致,停药后恢复;另1名患者病因不明确,以对症治疗为主,仍在随访中。共检索到低磷骨软化症病例报道的中文及英文文献192篇,其中药物引起的低磷骨软化症117例,肿瘤源性低磷骨软化63例。结论低磷骨软化症属于临床中少见的代谢性骨病,临床表现无特异性,病因隐匿,容易误诊及漏诊。需仔细查找引起低磷血症的病因,常见病因有遗传、药物、肿瘤以及范可尼综合征等,病因不明确时,需长期对症支持治疗并坚持随访监测。

Objective To report the clinical data of three cases of hypophosphatemic osteomalacia hospitalized in our department,to increasethe diagnosis and treatment level in clinical practice of such rare disease.Method To collect the history,biochemical parameters,imagedata and follow-up results of three patients diagnosed with hypophosphatemic osteomalacia.To retrieve the case reports based on WanFangDATA,CNKI and Pubmed databases using the keywords hypophosphatemia osteomalacia.Combing with the literature review,we analyzeand discuss the etiology of hypophosphatemia.Result All the three patients presented with long history of musculoskeletal pain,butthey were all initially misdiagnosed with other diseases.The biochemical parameters were all manifested as severe hypophosphatemiawith hyperphosphaturia and high level of bone alkaline phosphate(BAP).Two patients have severe osteoporosis,while one patient hasnormal result of bone disenty.Through multiple imaging examination,one patient was confirmed as tumor induced osteomalacia andresection of tumor cured the disease.One patient was followed up for a long time,and ?nally we deduce that the anti-hepatitis B virus drugentecavir was the cause and withdraw of this drug also cured the patient.The last patient was treated with calcium and phosphate until now,although the symptoms were relieved but the etiology was unclear.Retrieval of case reports showed that 192 cases of hypophosphatemiaosteomalacia were reviewed at home and abroad,of which the number of drug induced cases and tumor induced osteomalacia were 117 and 63,respectively.Conclusion Hypophosphatemic osteomalacia is a rare metabolic bone disease in clinic,especially,with non-speci?cclinical manifestations and insidious etiology,which can be easily misdiagnosed.The common causes of hypophosphatemia are hereditary,drug,tumor and fanconi syndrome which should be carefully explored.When the etiology is unclear,the patient needs symptomaticsupportive therapy and regular follow-up for long term.