Periodontal Status of Patients With Hypophosphatemic Rickets: A Case Series

Ye, Ling; Liu, Ruohong; White, Nicholas J.; Alon, Uri; Cobb, Charles M.

doi:10.1902/jop.2011.100736

Cited by 22 publications

(25 citation statements)

References 16 publications

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“…by exploring their overall periodontal status. Recently, a study has reported the periodontal condition of 10 adults with familial hypophosphatemic rickets (189). This study showed that 60% of the patients presented with periodontal bone lossa value much higher than those reported for periodontitis prevalence, of 3.6-7.3% (27,28)suggesting that patients with hypophosphatemic rickets have a tendency to experience an increase in periodontal bone loss and thus require more comprehensive examination by dental care providers.…”

Section: The Acidic Serine-and Aspartaterich Motif Peptide and Mineramentioning

confidence: 84%

Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X‐linked hypophosphatemia

McKee¹,

Hoac²,

Addison³

et al. 2013

Periodontology 2000

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As broadly demonstrated for the formation of a functional skeleton, proper mineralization of periodontal alveolar bone and teeth – where calcium phosphate crystals are deposited and grow within an extracellular matrix – is essential to dental function. Mineralization defects in tooth dentin and cementum of the periodontium invariably lead to a weak (soft or brittle) dentition such that teeth become loose and prone to infection and are lost prematurely. Mineralization of the extremities of periodontal ligament fibres (Sharpey's fibres) where they insert into tooth cementum and alveolar bone is also essential for the function of the tooth suspensory apparatus in occlusion and mastication. Molecular determinants of mineralization in these tissues include mineral ion concentrations (phosphate and calcium), pyrophosphate, small integrin-binding ligand N-linked glycoproteins (SIBLINGs), and matrix vesicles. Amongst the enzymes important in regulating these mineralization determinants, two are discussed at length here with clinical examples given, namely tissue-nonspecific alkaline phosphatase (TNAP) and phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). Inactivating mutations in these enzymes in humans and in mouse models lead to the soft bones and teeth characteristic of hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH), respectively, where levels of local and systemic circulating mineralization determinants are perturbed. In XLH, in addition to renal phosphate wasting causing low circulating phosphate levels, phosphorylated mineralization-regulating SIBLING proteins such as matrix extracellular phosphoglycoprotein (MEPE) and osteopontin (OPN), and the phosphorylated peptides proteolytically released from them such as the acidic serine- and aspartate-rich motif (ASARM) peptide, may accumulate locally to impair mineralization in this disease.

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Section: The Acidic Serine-and Aspartaterich Motif Peptide and Mineramentioning

confidence: 84%

Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X‐linked hypophosphatemia

McKee¹,

Hoac²,

Addison³

et al. 2013

Periodontology 2000

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“…On dental radiographs, the pulp chambers of deciduous or permanent teeth are larger than usual with long pulp horns extending to the dentino-enamel junction 114,172 . XLH is not associated with increased susceptibility to caries 114,115,171 .…”

Section: Box 9 | Recommendations For Orthopaedic Management In Childrmentioning

confidence: 96%

“…Children and adult patients with XLH might present with spontaneous endodontic infections on apparently intact teeth 18,114,115,171 . Dental abscesses can develop on deciduous as well as on permanent teeth 16,171 . The endodontic infection might be asymptomatic for months or years or it might evolve…”

Section: Assessment Of Surgical Outcomesmentioning

confidence: 99%

“…The frequency and severity of periodontitis is increased in adult patients with XLH and can lead to tooth loss. Cementum thickness, a central component of the periodontium, is reduced and associated with mineralization defects of the alveolar bone, which impairs the attachment of the ligament fibres 18,171 . On radiographs from adult patients, the lamina dura might be absent and the alveolar bone around teeth is frequently reduced 18,173 .…”

Section: Periodontitismentioning

confidence: 99%

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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

et al. 2019

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X-linked hypophosphataemia (XLH) is an X-linked dominant disorder caused by mutations in PHEX (located at Xp22.1), which encodes a cell-surface-bound protein-cleavage enzyme (phosphate-regulating neutral endopeptidase PHEX), predominantly expressed in osteoblasts, osteocytes and teeth (odontoblasts and cementoblasts). XLH is the most common cause of inherited phosphate wasting, with an incidence of 3.9 per 100,000 live births and a prevalence ranging from 1.7 per 100,000 children to 4.8 per 100,000 persons (children and adults) 1-3. Although the pathogenesis of XLH is not fully understood, animal studies indicate that loss of Phex function results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23), with osteocytes being the primary source of FGF23 production 4. These effects explain most of the characteristic features of the disease, including renal phosphate wasting with consequent hypophosphataemia, diminished synthesis of active vitamin D (1,25(OH) 2 vitamin D), rickets, osteomalacia, odontomalacia and disproportionate short stature 4-6. Patients usually develop clinical symptoms during the first or second year of life. Early treatment with oral phosphate supplementation and active vitamin D heals rickets, limits dental abscess formation and prevents progressive growth failure, but in a substantial proportion of patients treatment is unsuccessful and/or associated with adverse effects (for example, hyper parathyroidism and nephrocalcinosis) 7,8. Up to two-thirds of children with XLH require lower limb surgery 9-12. Conventional therapy further stimulates FGF23 levels and thereby renal phosphate wasting, resulting in a vicious circle, which might limit its efficacy 6,13-15. Adult patients with XLH are at risk of complications such as early osteoarthritis, enthesopathies, spinal stenosis, pseudofractures and hearing loss, which might limit quality of life 16-18. In 2018, burosumab, a fully human monoclonal IgG1 antibody neutralizing FGF23, was approved by health authorities for the treatment of patients with

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“…However, it is becoming clear that their periodontal health is also affected, especially in adults. Comparing the periodontal status of ten adults with familial HR with age-matched controls (73), it was observed that the prevalence of periodontitis was high in hypophosphatemic patients (60% vs 3.6% to 7.3% in controls). Our unpublished data on the periodontal status of more than 20 consecutive adult patients with HR revealed an increased prevalence and severity of periodontitis when compared with age-matched controls, despite a similar gingival inflammation (Fig.…”

Section: Dental and Periodontal Defectsmentioning

confidence: 99%

Therapeutic management of hypophosphatemic rickets from infancy to adulthood

Linglart¹,

Duplan²,

Briot³

et al. 2014

Endocrine Connections

273

389

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In children, hypophosphatemic rickets (HR) is revealed by delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses, and growth failure. If undiagnosed during childhood, patients with hypophosphatemia present with bone and/or joint pain, fractures, mineralization defects such as osteomalacia, entesopathy, severe dental anomalies, hearing loss, and fatigue. Healing rickets is the initial endpoint of treatment in children. Therapy aims at counteracting consequences of FGF23 excess, i.e. oral phosphorus supplementation with multiple daily intakes to compensate for renal phosphate wasting and active vitamin D analogs (alfacalcidol or calcitriol) to counter the 1,25-diOH-vitamin D deficiency. Corrective surgeries for residual leg bowing at the end of growth are occasionally performed. In absence of consensus regarding indications of the treatment in adults, it is generally accepted that medical treatment should be reinitiated (or maintained) in symptomatic patients to reduce pain, which may be due to bone microfractures and/or osteomalacia. In addition to the conventional treatment, optimal care of symptomatic patients requires pharmacological and non-pharmacological management of pain and joint stiffness, through appropriated rehabilitation. Much attention should be given to the dental and periodontal manifestations of HR. Besides vitamin D analogs and phosphate supplements that improve tooth mineralization, rigorous oral hygiene, active endodontic treatment of root abscesses and preventive protection of teeth surfaces are recommended. Current outcomes of this therapy are still not optimal, and therapies targeting the pathophysiology of the disease, i.e. FGF23 excess, are desirable. In this review, medical, dental, surgical, and contributions of various expertises to the treatment of HR are described, with an effort to highlight the importance of coordinated care.

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Periodontal Status of Patients With Hypophosphatemic Rickets: A Case Series

Abstract: The preliminary data from our study suggests that patients with hypophosphatemic rickets are more prone to periodontal bone loss than the general population and may require a more careful examination by dental care providers.

Cited by 22 publications

References 16 publications

Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X‐linked hypophosphatemia

Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X‐linked hypophosphatemia

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Therapeutic management of hypophosphatemic rickets from infancy to adulthood

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