Giampiero I Baroncelli1, Elisa Zampollo2, Mario Manca3, Benedetta Toschi4, Silvano Bertelloni5, Angela Michelucci6, Alessandro Isola3, Alessandra Bulleri7, Diego Peroni5, Maria Rita Giuca2. 1. Division of Pediatrics, Endocrine Unit, Department of Obstetrics, Gynecology and Pediatrics, University-Hospital, Via Roma 67, 56126, Pisa, Italy. g.baroncelli@med.unipi.it. 2. Division of Dentistry and Oral Surgery, Department of Surgical Specialties, University-Hospital, Pisa, Italy. 3. Unit of Orthopedics, Usl Northwest-Tuscany, Versilia Hospital, Camaiore, Italy. 4. Division of Medical Genetics, Department of Medical and Oncological Area, University-Hospital, Pisa, Italy. 5. Division of Pediatrics, Endocrine Unit, Department of Obstetrics, Gynecology and Pediatrics, University-Hospital, Via Roma 67, 56126, Pisa, Italy. 6. Unit of Molecular Genetics, Department of Laboratory Medicine, University-Hospital, Pisa, Italy. 7. Unit of Radiodiagnostic, Department of Diagnostic Imaging, University-Hospital, Pisa, Italy.
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.
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.
Authors: A F Ruchon; M Marcinkiewicz; G Siegfried; H S Tenenhouse; L DesGroseillers; P Crine; G Boileau Journal: J Histochem Cytochem Date: 1998-04 Impact factor: 2.479
Authors: Dieter Haffner; Francesco Emma; Deborah M Eastwood; Martin Biosse Duplan; Justine Bacchetta; Dirk Schnabel; Philippe Wicart; Detlef Bockenhauer; Fernando Santos; Elena Levtchenko; Pol Harvengt; Martha Kirchhoff; Federico Di Rocco; Catherine Chaussain; Maria Louisa Brandi; Lars Savendahl; Karine Briot; Peter Kamenicky; Lars Rejnmark; Agnès Linglart Journal: Nat Rev Nephrol Date: 2019-07 Impact factor: 28.314
Authors: Delaney Clayton; Michael B Chavez; Michelle H Tan; Tamara N Kolli; Priscila A Giovani; Kimberly J Hammersmith; Sasigarn A Bowden; Brian L Foster Journal: JBMR Plus Date: 2021-03-03