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Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets

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Abstract

Introduction

Rickets, growth failure, and recurrent periapical abscesses with fistulae are main signs in patients with X-linked hypophosphatemic rickets (XLH). Prevalence of abscesses, pulp chamber features, biochemical findings, disease severity, and PHEX gene mutation were examined.

Materials and methods

Pulp chambers size, shape, and morphology were assessed by orthopantomography in XLH patients (n = 24, age 5.8 ± 1.6 years) and in sex and age-matched healthy controls (n = 23, age 6.2 ± 1.4 years). XLH patients received conventional treatment (3.5 ± 1.9 years). Pulp chamber features were assessed in teeth of primary dentition and in the permanent left mandibular first molar and compared with those of controls. Rickets severity score was assessed at wrist, knee, and ankle.

Results

The mean pulp chamber area/tooth area ratio, mean pulp chamber height/pulp chamber width ratio, and prominence of pulp horns into the tooth crown in primary and secondary molars were significantly higher in patients than in controls and in patients suffered abscesses than in patients without abscesses. Sixteen patients (67%) had a history of abscesses; incisors were affected more than canines and molars. Severity of rickets and mean serum parathyroid hormone (PTH) levels were significantly higher, and mean serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels significantly lower in patients suffered abscesses than in patients without abscesses. PHEX gene mutations were not correlated with dental phenotype and disease severity.

Conclusion

Enlarged pulp chambers with altered shape and morphology affected the majority of XLH patients predisposing to recurrent periapical abscesses with fistulae. Dental phenotype was associated with severity of rickets, high serum PTH, and low serum 1,25(OH)2D levels.

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Authors and Affiliations

  1. Division of Pediatrics, Endocrine Unit, Department of Obstetrics, Gynecology and Pediatrics, University-Hospital, Via Roma 67, 56126, Pisa, Italy

    Giampiero I. Baroncelli, Silvano Bertelloni & Diego Peroni

  2. Division of Dentistry and Oral Surgery, Department of Surgical Specialties, University-Hospital, Pisa, Italy

    Elisa Zampollo & Maria Rita Giuca

  3. Unit of Orthopedics, Usl Northwest-Tuscany, Versilia Hospital, Camaiore, Italy

    Mario Manca & Alessandro Isola

  4. Division of Medical Genetics, Department of Medical and Oncological Area, University-Hospital, Pisa, Italy

    Benedetta Toschi

  5. Unit of Molecular Genetics, Department of Laboratory Medicine, University-Hospital, Pisa, Italy

    Angela Michelucci

  6. Unit of Radiodiagnostic, Department of Diagnostic Imaging, University-Hospital, Pisa, Italy

    Alessandra Bulleri

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  1. Giampiero I. Baroncelli
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  2. Elisa Zampollo
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Correspondence to Giampiero I. Baroncelli.

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Baroncelli, G.I., Zampollo, E., Manca, M. et al. Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets. J Bone Miner Metab 39, 212–223 (2021). https://doi.org/10.1007/s00774-020-01136-8

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