Orthodontic treatment in children and adolescent patients with X-linked hypophosphatemia: A case-control study.

OBJECTIVES: X-linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in matched controls undergoing similar orthodontic procedures. MATERIALS AND METHODS: For this retrospective case-control study, we included all individuals less than 16 years old diagnosed with XLH, orthodontically treated in our centre from 2016 to 2022 and pair-matched them to patients with no chronic or genetic conditions. Clinical and radiological parameters concerning their malocclusion, craniofacial discrepancy and the characteristics and iatrogenic effects of their orthodontic treatment were analysed. RESULTS: Fifteen XLH patients (mean age: 11.3 ± 2.1), pair-matched to 15 control patients were included. Orthodontic treatment was successfully conducted in XLH patients with slightly shorter duration and similar iatrogenic effects as in the control group, except for the occurrence of dental abscess during and after orthodontic tooth movement. XLH patients did not show more relapse than the controls. CONCLUSION: Despite the presence of oral manifestations of XLH such as spontaneous abscesses, XLH patients can undergo orthodontic treatment with no obvious additional iatrogenic effects.

Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives.

X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D ("conventional therapy") and a fully human monoclonal anti-FGF23 antibody, burosumab. The clinical benefit of conventional therapy in adults is limited, and poor tolerance and complications are common. Burosumab was first approved as a treatment for XLH in 2018 and its disease-modifying benefits in clinical trials in children suggest burosumab treatment could also alter the disease course in adults. Without long-term clinical data on multiple XLH-related sequelae available, the results of an elicitation exercise are reported, in which eight global experts in XLH posited how long-term treatment with burosumab is anticipated to impact the life course of clinical sequelae in adults with XLH. Based on their clinical experiences, the available evidence and their disease understanding, the experts agreed that some long-term benefits of using burosumab are likely in adults with XLH even if they have a misaligned skeleton from childhood. Burosumab treatment is anticipated to reduce the incidence of fractures and halt the progression of clinical sequelae associated with conventional therapy. While the trajectories for established dental abscesses are not expected to improve with burosumab treatment, dental abscess development may be prevented. Starting treatment with burosumab in childhood to increase the likelihood of an aligned skeleton and continuation into and throughout adulthood to maintain euphosphatemia may optimize patient outcomes, although future real-world investigation is required to support this hypothesis.

Clinical identification and endodontic management of furcation canals: a case series.

In the case of endodontic infection, the presence of furcation canals can be at the origin of a periodontal lesion located in the furcation. The furcation being very close to the marginal periodontium, this type of lesion can be favorable to the genesis of an endo-periodontal lesion. These furcation canals are lateral canals located on the pulp chamber floor and constitute one of the many physiological communication pathways between endodontic and periodontal tissues. These canals are most often difficult to localize, shape, and to fill because of their small diameter and length. The disinfection of the pulp chamber floor with sodium hypochlorite solution may contribute to the disinfection of furcation canals when they are not identified, shaped, and/or filled. This case series illustrates the endodontic management of visible furcation canals associated with an endo-periodontal lesion. These furcation canals had a large diameter which allowed their identification during the endodontic treatment.

Clinical identification and endodontic management of furcation canals: a case series

Abstract In the case of endodontic infection, the presence of furcation canals can be at the origin of a periodontal lesion located in the furcation. The furcation being very close to the marginal periodontium, this type of lesion can be favorable to the genesis of an endo-periodontal lesion. These furcation canals are lateral canals located on the pulp chamber floor and constitute one of the many physiological communication pathways between endodontic and periodontal tissues. These canals are most often difficult to localize, shape, and to fill because of their small diameter and length. The disinfection of the pulp chamber floor with sodium hypochlorite solution may contribute to the disinfection of furcation canals when they are not identified, shaped, and/or filled. This case series illustrates the endodontic management of visible furcation canals associated with an endo-periodontal lesion. These furcation canals had a large diameter which allowed their identification during the endodontic treatment.

Resumo No caso de infecção endodôntica, a presença de canais cavo inter-radiculares pode estar na origem de uma lesão periodontal localizada na região de furca. Sendo a furca muito próxima do periodonto marginal, esse tipo de lesão pode ser favorável à fomação de uma lesão endo-periodontal. Esses canais estão localizados no assoalho da câmara pulpar e constituem uma das inúmeras vias de comunicação fisiológica entre os tecidos endodônticos e periodontais. Esses canais são na maioria das vezes difíceis de localizar, instrumentar e obturar por causa do diâmetro e comprimento reduzidos. A desinfecção do assoalho da câmara pulpar com solução de hipoclorito de sódio pode contribuir para a desinfecção dos canais cavo inter-radiculares quando eles não são localizados, instrumentamos e/ou obturados. Os casos clínicos descritos ilustram o manejo endodôntico de canais cavo inter-radiculares visíveis associados a uma lesão endo-periodontal. Esses canais cavo inter-radiculares tinham um grande diâmetro que permitiu sua localização durante o tratamento endodôntico.

Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors.

CONTEXT: Enthesopathies are the determinant of a poor quality of life in adults with X-linked hypophosphatemia (XLH). OBJECTIVE: To describe the prevalence of patients with enthesopathies and to identify the risk factors of having enthesopathies. METHODS: Retrospective study in the French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism between June 2011 and December 2020. Adult XLH patients with full body X-rays performed using the EOS® low-dose radiation system and clinical data collected from medical records. The main outcome measures were demographics, PHEX mutation, conventional treatment, and dental disease with the presence of enthesopathies. RESULTS: Of the 114 patients included (68% women, mean age 42.2 ± 14.3 years), PHEX mutation was found in 105 patients (94.6%), 86 (77.5%) had been treated during childhood. Enthesopathies (spine and/or pelvis) were present in 67% of the patients (n = 76). Patients with enthesopathies were significantly older (P = .001) and more frequently reported dental disease collected from medical records (P = .03). There was no correlation between the PHEX mutations and the presence of enthesopathies. Sixty-two patients had a radiographic dental examination in a reference center. Severe dental disease (number of missing teeth, number of teeth endodontically treated, alveolar bone loss, and proportion of patients with 5 abscesses or more) was significantly higher in patients with enthesopathies. CONCLUSION: Adult XLH patients have a high prevalence of enthesopathies in symptomatic adults patients with XLH seen in a reference center. Age and severe dental disease were significantly associated with the presence of enthesopathies.

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

X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. Whenever possible, the diagnosis should be confirmed by molecular genetic analysis or measurement of levels of fibroblast growth factor 23 (FGF23) before treatment. Owing to the multisystemic nature of the disease, patients should be seen regularly by multidisciplinary teams organized by a metabolic bone disease expert. In this article, we summarize the current evidence and provide recommendations on features of the disease, including new treatment modalities, to improve knowledge and provide guidance for diagnosis and multidisciplinary care.