Evidence map›Paper›PMID 39702252›Full record

ArticleJournal of medical case reports2024

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report.

Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka and 2 more

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In one paragraph

Article in Journal of medical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Shusuke TokuchiDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Toshihiro KawanoDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Edward Hosea NtegeDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Makoto MurahashiDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Kentaro IdeDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Nobuyuki MaruyamaDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Risako SuzukiDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Mirei Takai-NabetaDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Tsuyoshi NabetaDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Hideo TanakaDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Yusuke ShimizuPlastic and Reconstructive Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Hiroyuki NakamuraDepartment of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan. hnak@me.com.ORCID http://orcid.org/0000-0002-2524-3063

Funding

Japan Society for the Promotion of Science 23K09358Japan Society for the Promotion of Science 24K13074
6 · The paper itself

Abstract

backgroundAdult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline phosphatase. Because of its low prevalence and non-specific clinical manifestations, underdiagnosis and misdiagnosis are frequent, particularly in Asian populations. CASE PRESENTATION: We present a case of a 38-year-old Japanese male diagnosed with adult hypophosphatasia following consecutive tooth loss during orthodontic treatment. Genetic analysis revealed a compound heterozygous mutation within the ALPL gene. The patient remained asymptomatic until orthodontic treatment, suggesting that increased mechanical stress overwhelmed residual enzyme activity, triggering the hypophosphatasia symptoms. Asfotase Alfa enzyme replacement therapy improved healing following tooth extraction.

conclusionThis case highlights the significance of including adult hypophosphatasia in the differential diagnosis for obscure dental complications arising during orthodontic procedures, particularly in Asian patients where certain ALPL variants may be more prevalent. Effective diagnosis and management of adult hypophosphatasia necessitate collaboration between orthodontic practitioners and medical specialists. Improved awareness and a multidisciplinary approach are crucial for timely diagnosis and successful intervention.

Indexed as

Alkaline PhosphataseHypophosphatasiaTooth LossAdultEnzyme Replacement TherapyHumansImmunoglobulin GMaleMutationRecombinant Fusion ProteinsTooth ExtractionAlkaline PhosphataseALPL protein, humanasfotase alfaImmunoglobulin GRecombinant Fusion ProteinsAdult-onset hypophosphatasiaALPL gene mutationsAsfotase AlfaOrthodontic complicationsTooth loss

Identifiers

PMID39702252
PMCPMC11660432

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.