Periodontal Status of Patients With Hypophosphatemic Rickets: A Case Series
ABSTRACT It was previously reported that dentin matrix protein 1-null mice, which are the hypophosphatemic rickets animal model, postnatally developed severe periodontal defects. However, to the best of our knowledge, it was not documented whether similar periodontal defects were present in human patients with hypophosphatemic rickets. The aim of this study is to evaluate the periodontal status of adult patients with hypophosphatemic rickets.
This case-series study evaluates the periodontal condition of adults with genetic hypophosphatemic rickets and compared their periodontal status with similar data from several cycles of the National Health and Nutrition Examination Survey (NHANES). Information regarding medical histories, dental histories, intraoral photos, probing depths (PD), calculated clinical attachment loss (AL), the presence of gingival recession, bleeding on probing, and full-mouth radiographic surveys were acquired. Descriptive statistics were used for comparison to NHANES data.
A total of 10 adult patients with hypophosphatemic rickets (two males and eight females) were evaluated. The definition of periodontitis used in this study is as follows: "A periodontitis case was defined as a person who had ≥ 3 sites with clinical AL ≥ 4 mm and ≥ 2 sites with PD ≥ 3 mm." According to this definition, the patients exhibited periodontal bone loss at a much higher prevalence (60%) compared to the reported national periodontitis prevalence (3.6% to 7.3%).
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.
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ABSTRACT: Familial hypophosphatemic rickets is a hereditary disease characterized by the involvement of several family members, transmitted in most cases as an X-linked dominant trait. Oral manifestations can be the first evidences for an adequate and early diagnosis of X-linked hypophosphatemic rickets (XLHR). The present report describes the main systemic manifestations, oral findings and dental management in three generations of an affected family. Oral exams, laboratorial and histologic evaluations, cone-beam computed tomographies, panoramic and periapical radiographs were performed to properly institute the most adequate treatment strategy. The knowledge of clinical signs and symptoms of XLHR is essential for the correct diagnosis of this disease, and for the establishment of preventive and comprehensive dental care.Special Care in Dentistry 12/2012; 33(6). DOI:10.1111/j.1754-4505.2012.00310.x
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ABSTRACT: 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 for dental function. Mineralization defects in tooth dentin and cementum of the periodontium invariably lead to a weak (soft or brittle) dentition in which teeth become loose and prone to infection and are lost prematurely. Mineralization of the extremities of periodontal ligament fibers (Sharpey's fibers) 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 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 and phosphate-regulating gene with homologies to endopeptidases on the X chromosome. Inactivating mutations in these enzymes in humans and in mouse models lead to the soft bones and teeth characteristic of hypophosphatasia and X-linked hypophosphatemia, respectively, where the levels of local and systemic circulating mineralization determinants are perturbed. In X-linked hypophosphatemia, in addition to renal phosphate wasting causing low circulating phosphate levels, phosphorylated mineralization-regulating small integrin-binding ligand N-linked glycoproteins, such as matrix extracellular phosphoglycoprotein and osteopontin, and the phosphorylated peptides proteolytically released from them, such as the acidic serine- and aspartate-rich-motif peptide, may accumulate locally to impair mineralization in this disease.Periodontology 2000 10/2013; 63(1):102-22. DOI:10.1111/prd.12029 · 3.63 Impact Factor
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ABSTRACT: In children, hypophosphatemic rickets 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 analogues (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 hypophosphatemic rickets. Besides vitamin D analogues 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 hypophosphatemic rickets are described, with an effort to highlight the importance of coordinated care.Endocrine Connections 02/2014; 3(1). DOI:10.1530/EC-13-0103