A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage
Background: 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 appr...
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MDPI AG
2025-01-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/12/1/61 |
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| author | Tatsuya Akitomo Noriko Niizato Ami Kaneki Masashi Ogawa Taku Nishimura Mariko Kametani Momoko Usuda Yuko Iwamoto Chieko Mitsuhata Ryota Nomura |
| author_facet | Tatsuya Akitomo Noriko Niizato Ami Kaneki Masashi Ogawa Taku Nishimura Mariko Kametani Momoko Usuda Yuko Iwamoto Chieko Mitsuhata Ryota Nomura |
| author_sort | Tatsuya Akitomo |
| collection | DOAJ |
| description | Background: 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. Case presentation: 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. Conclusions: 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. |
| format | Article |
| id | doaj-art-b9fc10f3125d44588a1ff7b2e78dfeee |
| institution | Kabale University |
| issn | 2227-9067 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj-art-b9fc10f3125d44588a1ff7b2e78dfeee2025-01-24T13:27:09ZengMDPI AGChildren2227-90672025-01-011216110.3390/children12010061A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood StageTatsuya Akitomo0Noriko Niizato1Ami Kaneki2Masashi Ogawa3Taku Nishimura4Mariko Kametani5Momoko Usuda6Yuko Iwamoto7Chieko Mitsuhata8Ryota Nomura9Department of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanAcacia Kids’ Dental Clinic, Hiroshima 731-0102, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanDepartment of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, JapanBackground: 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. Case presentation: 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. Conclusions: 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.https://www.mdpi.com/2227-9067/12/1/61hypophosphatasiaenzyme replacement therapytooth exfoliation |
| spellingShingle | Tatsuya Akitomo Noriko Niizato Ami Kaneki Masashi Ogawa Taku Nishimura Mariko Kametani Momoko Usuda Yuko Iwamoto Chieko Mitsuhata Ryota Nomura A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage Children hypophosphatasia enzyme replacement therapy tooth exfoliation |
| title | A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage |
| title_full | A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage |
| title_fullStr | A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage |
| title_full_unstemmed | A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage |
| title_short | A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage |
| title_sort | case of hypophosphatasia started enzyme replacement therapy since babyhood stage |
| topic | hypophosphatasia enzyme replacement therapy tooth exfoliation |
| url | https://www.mdpi.com/2227-9067/12/1/61 |
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