不明原因根尖周炎为首诊症状的低血磷性佝偻病1例

doi:10.7518/hxkq.2024.2024175

摘要/Abstract

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。

关键词: X连锁性低血磷性佝偻病, 非龋坏牙, 根尖周炎

Abstract:

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.

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

中图分类号:

R788

史远, 苏吉梅, 吕丽华, 吴鼎文. 不明原因根尖周炎为首诊症状的低血磷性佝偻病1例[J]. 华西口腔医学杂志, 2024, 42(6): 832-838.

Shi Yuan, Su Jimei, Lü Lihua, Wu Dingwen. A case of hypophosphatemia rickets with unidentified apical periodontitis as the initial symptom of diagnosis[J]. West China Journal of Stomatology, 2024, 42(6): 832-838.

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治疗日期（年龄）	身高/cm	磷/（mmol/L）	碱性磷酸酶/（U/L）	口腔检查	口腔诊断	口腔治疗
2020年9月9日（3岁）	89.2	0.84	1 083	51、61、81牙无龋坏，唇侧牙龈瘘管；74牙舌倾，无龋坏，颊侧牙龈瘘管	51、61、74、81牙慢性根尖周炎	51、61、74、81牙根管治疗，涂氟
2020年12月21日（3岁3月）	89.2	0.77	946	71牙无龋坏，唇侧牙龈瘘管	71牙慢性根尖周炎	71牙根管治疗，涂氟
2021年5月21日（3岁8月）	94.2	1.45	871	51牙充填物存，唇侧牙龈瘘管；55牙面龋洞	51牙慢性根尖周炎，55牙乳牙中龋	51牙根管再治疗，55牙充填，涂氟
2021年9月9日（4岁）	97.9	0.76	869	65牙面龋洞	65牙乳牙中龋	65牙充填，75、85牙窝沟封闭，涂氟
2022年3月3日（4岁6月）	100.0	0.74	743	无特殊，未见牙龈瘘管	无特殊	涂氟
2023年2月20日（5岁6月）	102.0	0.86	694	52牙无龋坏，唇侧瘘管；51牙唇侧陈旧瘘管	51、52牙慢性根尖周炎	52牙根管治疗，51牙拔除，涂氟
2023年5月19日（5岁9月）	106.4	1.26	647	71牙残根，71、81牙松动Ⅲ度	71、81牙慢性根尖周炎	71、81牙拔除，全口涂氟
2024年1月12日（6岁5月）	106.4	1.05	708	62牙无龋，唇侧牙龈瘘管	62牙慢性根尖周炎	62牙根管治疗，涂氟

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