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The International X-Linked Hypophosphatemia (XLH) Registry : first interim analysis of baseline demographic, genetic and clinical data
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- Ariceta, Gema (författare)
- Department of Pediatric Nephrology, Hospital Vall d'Hebron, Universitat Autonoma Barcelona, Barcelona, Spain
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- Beck-Nielsen, Signe Sparre (författare)
- Centre for Rare Diseases, Aarhus University Hospital, Åarhus, Denmark; Department of Clinical Medicine, Aarhus University, Åarhus, Denmark
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- Boot, Annemieke M. (författare)
- Department of Pediatrics, Division of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
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- Brandi, Maria Luisa (författare)
- FIRMO Foundation, Florence, Italy; Donatello Bone Clinic, Florence, Italy
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- Briot, Karine (författare)
- Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, AP-HP, Paris, France
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- de Lucas Collantes, Carmen (författare)
- Universidad Autónoma de Madrid, Madrid, Spain; Hospital Infantili Niño Jesús, Madrid, Spain
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- Emma, Francesco (författare)
- Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy
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- Giannini, Sandro (författare)
- Department of Medicine, Clinica Medica 1, University of Padova, Padua, Italy
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- Haffner, Dieter (författare)
- Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
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- Keen, Richard (författare)
- Royal National Orthopaedic Hospital, Stanmore, UK
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- Levtchenko, Elena (författare)
- Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, University of Leuven, Leuven, Belgium
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- Mӓkitie, Outi (författare)
- Karolinska Institutet
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- Mughal, M. Zulf (författare)
- Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK
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- Nilsson, Ola, 1970- (författare)
- Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden; School of Medical Sciences and Department of Pediatrics, University Hospital, Örebro, Sweden
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- Schnabel, Dirk (författare)
- Center for Chronically Sick Children, Pediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany
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- Tripto-Shkolnik, Liana (författare)
- Division of Endocrinology, Diabetes and Metabolism, Chaim Sheba Medical Center, Tel Hashomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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- Liu, Jonathan (författare)
- Kyowa Kirin International, Marlow, UK
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- Williams, Angela (författare)
- Kyowa Kirin International, Marlow, UK
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- Wood, Sue (författare)
- Kyowa Kirin International, Marlow, UK
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- Zillikens, M. Carola (författare)
- Bone Center, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
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(creator_code:org_t)
- BioMed Central (BMC), 2023
- Engelska.
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Ingår i: Orphanet Journal of Rare Diseases. - : BioMed Central (BMC). - 1750-1172. ; 18:1
- Relaterad länk:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- BACKGROUND: X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As a chronic disease resulting in progressive accumulation of musculoskeletal manifestations, it is important to understand the natural history of XLH over the patient's lifetime and the impact of drug treatments and other interventions. This multicentre, international patient registry (International XLH Registry) was established to address the paucity of these data. Here we present the findings of the first interim analysis of the registry.RESULTS: The International XLH Registry was initiated in August 2017 and includes participants of all ages diagnosed with XLH, regardless of their treatment and management. At the database lock for this first interim analysis (29 March 2021), 579 participants had entered the registry before 30 November 2020 and are included in the analysis (360 children [62.2%], 217 adults [37.5%] and 2 whose ages were not recorded [0.3%]; 64.2% were female). Family history data were available for 319/345 (92.5%) children and 145/187 (77.5%) adults; 62.1% had biological parents affected by XLH. Genetic testing data were available for 341 (94.7%) children and 203 (93.5%) adults; 370/546 (67.8%) had genetic test results; 331/370 (89.5%) had a confirmed PHEX mutation. A notably longer time to diagnosis was observed in adults ≥ 50 years of age (mean [median] duration 9.4 [2.0] years) versus all adults (3.7 [0.1] years) and children (1.0 [0.2] years). Participants presented with normal weight, shorter length or height and elevated body mass index (approximately - 2 and + 2 Z-scores, respectively) versus the general population. Clinical histories were collected for 349 participants (239 children and 110 adults). General data trends for prevalence of bone, dental, renal and joint conditions in all participants were aligned with expectations for a typical population of people with XLH.CONCLUSION: The data collected within the International XLH Registry, the largest XLH registry to date, provide substantial information to address the paucity of natural history data, starting with demographic, family history, genetic testing, diagnosis, auxology and baseline data on clinical presentation.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Fibroblast growth factor 23 (FGF23)
- Hypophosphatemic rickets
- International
- Natural history
- Osteomalacia
- PHEX mutation
- Patient registry
- Rare disease
- X-linked hypophosphatemia (XLH)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
- Av författaren/redakt...
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Ariceta, Gema
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Beck-Nielsen, Si ...
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Boot, Annemieke ...
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Brandi, Maria Lu ...
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Briot, Karine
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de Lucas Collant ...
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visa fler...
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Emma, Francesco
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Giannini, Sandro
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Haffner, Dieter
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Keen, Richard
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Levtchenko, Elen ...
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Mӓkitie, Outi
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Mughal, M. Zulf
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Nilsson, Ola, 19 ...
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Schnabel, Dirk
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Tripto-Shkolnik, ...
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Liu, Jonathan
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Williams, Angela
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Wood, Sue
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Zillikens, M. Ca ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
- Artiklar i publikationen
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Orphanet Journal ...
- Av lärosätet
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Örebro universitet
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Karolinska Institutet