A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.

IF 2 4区医学 Q2 PEDIATRICS

Children-Basel Pub Date : 2025-01-06 DOI:10.3390/children12010061

Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura

{"title":"A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.","authors":"Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura","doi":"10.3390/children12010061","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0000,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764115/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Children-Basel","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/children12010061","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

Abstract

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.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

来源期刊

Children-Basel PEDIATRICS-

CiteScore

2.70

自引率

16.70%

发文量

1735

审稿时长

6 weeks

期刊介绍： Children is an international, open access journal dedicated to a streamlined, yet scientifically rigorous, dissemination of peer-reviewed science related to childhood health and disease in developed and developing countries. The publication focuses on sharing clinical, epidemiological and translational science relevant to children’s health. Moreover, the primary goals of the publication are to highlight under‑represented pediatric disciplines, to emphasize interdisciplinary research and to disseminate advances in knowledge in global child health. In addition to original research, the journal publishes expert editorials and commentaries, clinical case reports, and insightful communications reflecting the latest developments in pediatric medicine. By publishing meritorious articles as soon as the editorial review process is completed, rather than at predefined intervals, Children also permits rapid open access sharing of new information, allowing us to reach the broadest audience in the most expedient fashion.