不明原因根尖周炎为首诊症状的低血磷性佝偻病1例  

A case of hypophosphatemia rickets with unidentified apical periodontitis as the initial symptom of diagnosis

作　　者：史远 苏吉梅[1] 吕丽华 吴鼎文[1] Shi Yuan;Su Jimei;LüLihua;Wu Dingwen(Dept.of Stomatology,Children’s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院口腔科,国家儿童健康与疾病临床医学研究中心,杭州310052

出　　处：《华西口腔医学杂志》2024年第6期832-838,共7页West China Journal of Stomatology

摘　　要：低血磷性佝偻病是一种罕见病,分为遗传性与获得性两类。主要临床表现有生长障碍、四肢弯曲畸形及功能障碍,以及成人甲状旁腺功能亢进、骨关节炎、骨软化症、多发性骨折等,口腔表现为非龋坏、非外伤牙齿出现反复根尖周炎、根尖周脓肿甚至蜂窝织炎、牙周炎、牙齿早失等。X连锁性低血磷性佝偻病(XLHR)占所有低血磷性佝偻病的80%。本文报告1例以多个非龋坏、非外伤牙根尖周炎为首诊症状的3岁XLHR患儿,通过病史、体格检查、实验室检查、影像学检查、基因型检测,结合文献分析其临床表现、影像学特征、诊断、鉴别诊断、治疗以及随访,为临床诊治提供参考,减少口腔科医生漏诊和误诊。Hypophosphatemia rickets is a rare disease that is divided into two categories,namely,hereditary and acquirability.Its clinical manifestations include growth disorders,limb deformities and dysfunction,poor mineralization of the teeth,and growth retardation in children as well as hyperparathyroidism,osteoarthritis,osteomalacia,and pseudofracture in adults.Oral manifestations include non-carious teeth with recurrent apical periodontitis,periapical abscess and even cellulitis,periodontitis,and early tooth loss.X-linked hypophosphatemia rickets(XLHR)accounts for approximately 80%of all hypophosphatemia rickets.We report a 3-year-old child with XLHR whose first diagnosis was apical periodontitis of multiple non-carious and non-traumatic teeth.Through medical history,clinical examination,laboratory examination,radiographic findings,genotype testing,and literature analysis,we analyze the pathogenesis,clinical manifestations,radiographic features,diagnosis and differential diagnosis,treatment,and follow-up.This work provides reference for clinical diagnosis and treatment and reduces missed diagnosis and misdiagnosis by dentists.

关 键 词：X连锁性低血磷性佝偻病 非龋坏牙 根尖周炎 

分 类 号：R788[医药卫生—口腔医学]