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

ABSTRACT: 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.

SUBMITTER: Haffner D

PROVIDER: S-EPMC7136170 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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

Haffner Dieter D Emma Francesco F Eastwood Deborah M DM Duplan Martin Biosse MB Bacchetta Justine J Schnabel Dirk D Wicart Philippe P Bockenhauer Detlef D Santos Fernando F Levtchenko Elena E Harvengt Pol P Kirchhoff Martha M Di Rocco Federico F Chaussain Catherine C Brandi Maria Louisa ML Savendahl Lars L Briot Karine K Kamenicky Peter P Rejnmark Lars L Linglart Agnès A

Nature reviews. Nephrology 20190701 7

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 ar ...[more]

PMID: 31068690

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Project description:BackgroundDelirium commonly occurs in hospitalized adults. Psychiatric disorders such as anxiety, depression, and post-traumatic stress disorder (PTSD) can co-occur with delirium, and can be recognized and managed by clinicians using recommendations found in methodological guiding statements called Clinical Practice Guidelines (CPGs). The specific aims of this review were to: [1] synthesize CPG recommendations for the diagnosis and management of anxiety, depression, and PTSD in adults with delirium in acute care; and [2] identify recent published literature in addition to those identified and reported in a 2017 review on delirium CPG recommendations and quality.MethodsMEDLINE, EMBASE, CINAHL, PsycINFO, and 21 sites on the Canadian Agency for Drugs and Technologies listed in the Health Grey Matters Lite tool were searched from inception to February 12, 2021. Selected CPGs focused on delirium in acute care, were endorsed by an international scientific society or governmental organization, and contained at least one recommendation for the diagnosis or management of delirium. Two reviewers independently extracted data in duplicate and independently assessed CPG quality using the AGREE-II tool. Narrative synthesis of CPG recommendations was conducted.ResultsTitle and abstract screening was completed on 7611 records. Full-text review was performed on 197 CPGs. The final review included 27 CPGs of which 7 (26%) provided recommendations for anxiety (4/7, 57%), depression (5/7, 71%), and PTSD (1/7, 14%) in delirium. Twenty CPGs provided recommendations for delirium only (e.g., assess patient regularly, avoid use of benzodiazepines). Recommendations for the diagnosis of psychiatric disorders with delirium included using evidence-based diagnostic criteria and standardized screening tools. Recommendations for the management of psychiatric disorders with delirium included pharmacological (e.g., anxiolytics, antidepressants) and non-pharmacological interventions (e.g., promoting patient orientation using clocks). Guideline quality varied: the lowest was Applicability (mean = 36%); the highest Clarity of Presentation (mean = 76%).ConclusionsThere are few available evidence-based CPGs to facilitate appropriate diagnosis and management of anxiety, depression, and PTSD in patients with delirium in acute care. Future guideline developers should incorporate evidence-based recommendations on the diagnosis and management of these psychiatric disorders in delirium.Systematic review registrationRegistration number: PROSPERO (CRD42021237056).

Project description:AimsMultidisciplinary tumor boards (MDTs) are an integral part of ensuring high-quality, evidence-based and personalized cancer care. In this study, we aimed to evaluate the adherence to and implementation of MDT recommendations in patients with oligometastatic disease (OMD).MethodsWe screened all oncologic positron emission tomography (PET) scans conducted at a single comprehensive cancer center in 2020. Patients were included if they had evidence of imaging-based OMD from a solid organ malignancy on the index scans, had their OMD case discussed at an MDT, and were treated and followed up at the same center. A switch away from the MDT-recommended treatment modalities was classified as a major deviation; non-MDT-mandated adjustments to a recommended treatment modality were coded as minor deviation. Clinical data was obtained via chart review; statistical calculations were computed using the R software.ResultsAfter review of PET and/or concurrent brain scans, 787 cases of OMD were identified. Thereof, 347 (44.1 %) cases were discussed at MDT, of which 331 (42.1 %) were therapeutically managed and subsequently followed. The three most commonly recommended therapies were systemic therapy (35.6 %), multimodality treatment including definitive local therapy (17.8 %), and radiotherapy (13.9 %). A major deviation was recorded in 16.3 % of cases (most commonly: none of the MDT-recommended treatment modalities were performed: 19 (35.2 %); not all MDT-planned treatment modalities were performed: 12 (22.2 %); and additional treatment modality was performed: 11 (20.3 %). A minor deviation was found in 1.5 % of cases. On multivariable regression, number of distant metastases (n > 1) was associated with a major deviation (OR: 1.85; 95 % CI, 1.0-3.52). Major deviations were associated with a significantly worse OS (p = 0.0034).ConclusionsAdherence to and implementation of MDT recommendations in OMD patients was generally high (83.7%). Major deviations might be further reduced by more careful and elaborate discussions of OMD patient characteristics s and patient preferences.

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

Publications

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

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