一例自婴儿期起开始酶替代治疗的低磷酸酯酶症病例。

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

作者信息

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

机构信息

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.

出版信息

Children (Basel). 2025 Jan 6;12(1):61. doi: 10.3390/children12010061.

DOI:10.3390/children12010061

PMID:39857892

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11764115/

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.

摘要