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论文摘要

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, 吕丽华, 吴鼎文

Author:Shi Yuan, Su Jimei, Lü Lihua, Wu Dingwen

收稿日期:2024-05-06          年卷(期)页码:2024,42(6):832-832-838

期刊名称:华西口腔医学杂志

Journal Name:West China Journal of Stomatology

关键字:X连锁性低血磷性佝偻病,非龋坏牙,根尖周炎,

Key words:X-linked hypophosphatemia rickets,non-carious teeth,apical periodontitis,

基金项目:

中文摘要

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。

英文摘要

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.

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