Akitomo Tatsuya, Niizato Noriko, Kaneki Ami, Ogawa Masashi, Nishimura Taku, Kametani Mariko, Usuda Momoko, Iwamoto Yuko, Mitsuhata Chieko, Nomura Ryota
Department of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
Acacia Kids' Dental Clinic, Hiroshima 731-0102, Japan.
Children (Basel). 2025 Jan 6;12(1):61. doi: 10.3390/children12010061.
Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia. Although enzyme replacement therapy with asfotase alfa was approved in 2015, there are few reports about the dental outcomes of this treatment.
A 1-year-old girl referred to our hospital had already lost two primary teeth at the time of her initial visit. She started enzyme replacement therapy 6 days after birth, and genetic analysis later confirmed the diagnosis of HPP. At the age of 4 years and 7 months, 11 primary teeth had been lost, and some of the exfoliated teeth showed inflammatory root resorption or root fracture. There was also a history of abscess formation in a non-carious primary molar.
This report suggests that early enzyme replacement therapy may prevent traditional tooth loss in patients with HPP. It also highlights the new challenges posed for dental professionals in providing infection control in large pulp cavities and receding periodontal tissue.
低磷酸酯酶症（HPP）是一种由组织非特异性碱性磷酸酶活性降低引起的遗传性疾病。牙齿特征包括乳牙过早脱落、牙髓腔增大和牙釉质发育不全。尽管2015年阿法骨化醇酶替代疗法已获批准，但关于该治疗牙齿预后的报道很少。
一名转诊至我院的1岁女孩初诊时已脱落两颗乳牙。她出生后6天开始酶替代治疗，后来的基因分析证实诊断为HPP。4岁7个月时，已脱落11颗乳牙，一些脱落的牙齿显示有炎性牙根吸收或牙根折断。一颗非龋性乳磨牙还有脓肿形成史。
本报告表明，早期酶替代治疗可能预防HPP患者传统的牙齿脱落。它还凸显了牙科专业人员在为大牙髓腔和退缩的牙周组织提供感染控制方面面临的新挑战。
