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日本全国性低磷酸酯酶症牙科调查揭示了新的口腔表现。

Japanese nationwide dental survey of hypophosphatasia reveals novel oral manifestations.

作者信息

Okawa Rena, Kadota Tamami, Kurosaka Hiroshi, Nakayama Hirofumi, Ochiai Marin, Ogaya Yuko, Kubota Takuo, Yamashiro Takashi, Nakano Kazuhiko

机构信息

Department of Pediatric Dentistry, Graduate School of Dentistry, The University of Osaka, 1-8 Yamadaoka, Suita, Osaka, 565-0871, Japan.

Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, The University of Osaka, 1-8 Yamadaoka, Suita, Osaka, 565-0871, Japan.

出版信息

Sci Rep. 2025 Feb 25;15(1):6743. doi: 10.1038/s41598-025-91043-7.

Abstract

Hypophosphatasia (HPP) is a common inherited skeletal disease. Early exfoliation of primary teeth is known as a dental manifestation of HPP, and sometimes this symptom leads to a diagnosis of HPP. This study aimed to investigate the dental manifestations of HPP in the Japanese population, focusing on dentition and occlusion. A total of 609 dental clinics among general hospitals with dentistry departments were invited to participate. Clinics were sent questionnaires about the number of HPP cases encountered from 2018 to 2022. When clinics indicated that they had treated HPP cases, we proceeded with a second questionnaire about the clinical dental findings of these cases. A total of 103 clinical records of HPP from 30 clinics were collected. Forty percent of non-odonto type cases showed enamel hypomineralization, which was significantly higher than the incidence found in odonto type cases (8.5%) (P < 0.001). Non-odonto type cases also exhibited malocclusion (40.0%), poor oral habits (29.1%), and dysphagia (23.6%). The number of dental visits made by HPP patients is increasing because of the development of new treatments and increased disease awareness. Dental symptoms of HPP vary in severity, with particularly severe forms of HPP associated with enamel hypomineralization, malocclusion, poor oral habits, and dysphagia. Patients with HPP require not only medical collaboration but also multidisciplinary dental care according to the severity of the disease.

摘要

低磷酸酯酶症(HPP)是一种常见的遗传性骨骼疾病。乳牙早脱是HPP的一种牙齿表现,有时这种症状会导致对HPP的诊断。本研究旨在调查日本人群中HPP的牙齿表现,重点关注牙列和咬合情况。共有609家设有牙科科室的综合医院的牙科诊所受邀参与。向诊所发送了关于2018年至2022年期间遇到的HPP病例数量的问卷。当诊所表示他们治疗过HPP病例时,我们继续发放关于这些病例临床牙齿检查结果的第二份问卷。共收集了来自30家诊所的103份HPP临床记录。40%的非牙本质型病例表现出釉质矿化不全,这显著高于牙本质型病例的发生率(8.5%)(P<0.001)。非牙本质型病例还表现出咬合不正(40.0%)、不良口腔习惯(29.1%)和吞咽困难(23.6%)。由于新治疗方法的发展和疾病认知度的提高,HPP患者的看牙次数正在增加。HPP的牙齿症状严重程度各不相同,特别严重的HPP形式与釉质矿化不全、咬合不正、不良口腔习惯和吞咽困难有关。HPP患者不仅需要医疗协作,还需要根据疾病的严重程度接受多学科牙科护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afe7/11861587/43bd605fc243/41598_2025_91043_Fig1_HTML.jpg

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