一例普通变异型免疫缺陷病患者的全身性牙根巨长及巨牙样牙列外观：病例报告

文献信息

中文摘要

背景： 普通变异型免疫缺陷病（CVID）是一种原发性免疫缺陷病，以低丙种球蛋白血症和抗体产生受损为特征，使患者易发生反复感染和免疫失调。尽管已有CVID患者发生口腔感染和牙周病的报道，但发育性牙颌面异常鲜有描述。
病例介绍： 一名既往确诊CVID的19岁男性因慢性牙源性窦道继发的颏部疼痛、肿胀和脓性分泌物就诊。临床检查显示牙列普遍性增大伴明显拥挤，形成巨牙样牙列外观。影像学和锥形束计算机断层扫描（CBCT）评估显示前后牙均存在普遍性牙根延长。全身性牙根巨长的诊断依据为影像学上普遍性牙根延长的证据，以及在可获得适当规范数据的牙型中测量值超过已发表的参考值。该患者还表现为小细胞低色素性贫血、轻度凝血异常、反复鼻窦呼吸道感染、支气管扩张、传导性听力损失和碱性磷酸酶水平升高。通过口腔颌面外科、血液科和免疫科的多学科协作，反复牙源性感染的手术治疗获得成功。
结论： 据我们所知，全身性牙根巨长此前尚未有与CVID相关的报道。尽管CVID与全身性牙根延长的共存值得注意，但单凭一例病例无法建立直接因果关系。需要进一步的临床和遗传学研究以确定这是否为真实关联。需要更多临床和遗传学研究来阐明这一罕见牙颌面表型的意义。本病例报告按照CARE指南2013（Gagnier, J. J., et al., 2013）编写。

英文摘要

BACKGROUND: Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by hypogammaglobulinemia and impaired antibody production, predisposing affected individuals to recurrent infections and immune dysregulation. Although oral infections and periodontal disease have been reported in patients with CVID, developmental dentofacial abnormalities have rarely been described.
CASE PRESENTATION: A 19-year-old male with a previously established diagnosis of CVID presented with pain, swelling, and purulent discharge from the chin region secondary to a chronic odontogenic sinus tract. Clinical examination revealed generalized enlargement of the dentition with marked crowding, producing a macrodontic dental appearance. Radiographic and cone-beam computed tomography (CBCT) evaluation demonstrated generalized root elongation involving both anterior and posterior teeth. The diagnosis of generalized radiculomegaly was supported by radiographic evidence of generalized root elongation and measurements exceeding available published reference values for the tooth types for which appropriate normative data were available. The patient also exhibited microcytic hypochromic anemia, mild coagulation abnormalities, recurrent sino-respiratory infections, bronchiectasis, conductive hearing loss, and elevated alkaline phosphatase levels. Surgical management of recurrent odontogenic infection was successfully achieved through multidisciplinary coordination involving oral and maxillofacial surgeons, hematologists, and immunologists.
CONCLUSION: To the best of our knowledge, generalized radiculomegaly has not previously been reported in association with CVID. Although the coexistence of CVID and generalized root elongation is noteworthy, a direct causal association cannot be established from a single case. Further clinical and genetic studies are required to determine whether this represents a true association. Additional clinical and genetic studies are required to clarify the significance of this unusual dentofacial phenotype. This case report was prepared in accordance with the CARE guidelines 2013 (Gagnier, J. J., et al., 2013).