Results 11 to 20 of about 5,906 (249)

X-linked hypophosphataemia

Tidsskrift for Den norske legeforening
X-linked hypophosphataemia is a rare genetic disorder that causes renal phosphate wasting, impaired mineralisation of teeth and bones, skeletal deformities and limited mobility, all of which significantly impact on health and quality of life. This clinical review examines the recommendations for diagnosing, treating and monitoring adults with the ...
Trine E. Finnes, Lena Lande Wekre, Per M. Thorsby, Silje Hjort Rafaelsen, Marianne Aardal Grytaas, Guri Grimnes, Bjørn Olav Åsvold, Hege Kampen Pihlstrøm, Janne E. Reseland, Tormod B. Krüger, Heidi Beate Eggesbø, Ole Rasmus Theisen, Mai Britt Bjørk, Ansgar Heck, Cennet Akdeniz, Qidi Wang   +15 more
semanticscholar   +9 more sources

X‐Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

Journal of Paediatrics and Child Health, Volume 61, Issue 5, Page 685-700, May 2025.
ABSTRACT X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X‐linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae ...
Jessica L. Sandy, Andrew Biggin, Aris Siafarikas, Peter J. Simm, Christine P. Rodda, Craig F. Munns   +5 more
wiley   +2 more sources

Prolonged and Refractory Hypophosphataemia Following Intravenous Ferric Carboxymaltose Administration Delaying Hospital Discharge: A Case Report. [PDF]

Cureus
Hypophosphataemia is an under-recognised complication of intravenous ferric carboxymaltose (Ferinject). While often transient and asymptomatic, in some cases, it may be severe and prolonged.
Sajid Z.
europepmc   +2 more sources

Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK. [PDF]

Calcif Tissue Int
X-linked hypophosphataemia (XLH) is a genetic phosphate-wasting disorder caused by excess fibroblast growth factor 23 (FGF23), which leads to skeletal morbidities, pain, stiffness, and impairments in physical function and health-related quality of life ...
Bubbear J, Lachmann R, Murphy E, Krishna G, Clunie GPR, Walsh J, Schini M, Salam S, Roy M, Finezilber Y, Mathieson L, Hayes V, Johnson B, Logan G, Stevens D, Davda R, Nixon M, Bowden A, Barham H, Keen R.   +19 more
europepmc   +2 more sources

The Australasian Society of Parenteral and Enteral Nutrition: Consensus statements on refeeding syndrome. [PDF]

Nutr Diet
Abstract Aims This consensus statement document describes the recommendations of the Australasian Society of Parenteral and Enteral Nutrition regarding the identification and management of refeeding syndrome and refeeding syndrome risk. Methods An expert working group completed a review of the literature to develop recommendations for the consensus ...
Matthews-Rensch K, Blackwood K, Lawlis D, Breik L, McLean C, Nguyen T, Phillips S, Small K, Stewart T, Thatcher A, Venkat L, Brodie E, Cleeve B, Diamond L, Ng MY, Small A, Viner Smith E, Asrani V.   +17 more
europepmc   +2 more sources

Intravenous administration of ferric derisomaltose is associated with a higher incidence of infusion reactions than ferric carboxymaltose, and unaffected by dilution volume. [PDF]

Intern Med J
Abstract Background The incidence of and risk factors for infusion‐related reactions to intravenous iron formulations remains poorly characterised. This study aimed to compare the rates of infusion reactions in patients receiving ferric derisomaltose (FDI) compared to ferric carboxymaltose (FCM), as well as across different dilutions of FDI.
Lucas S, Chauhan A, Hurley C, Xu C, Yu C, Tan K, Taylor S, Suleiman M, Leung T, Garg M.   +9 more
europepmc   +2 more sources

A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia. [PDF]

Front Health Serv
Introduction X-linked hypophosphataemia (XLH) is a rare, genetic, renal phosphate wasting disorder that causes a lifelong rapid progression of morbidities, which are associated with substantial humanistic and economic burden.
Pinedo-Villanueva R, Javaid MK, Williams A, Whittle I, Franceschini M, Johnson B.   +5 more
europepmc   +2 more sources

Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey. [PDF]

BMJ Paediatr Open
Background X-linked hypophosphataemia (XLH) is a rare inherited disorder often misdiagnosed and lacking sufficient aetiological treatment. Previous studies have shown that XLH is associated with worse health-related quality of life (HRQoL) and greater ...
Zhu L, Tang Z, Hu J, Li D, Zhang A, Chen Y, Liu L, Luo F, Kang Q, Jin C.   +9 more
europepmc   +2 more sources

A new metabolic path in type 3 rickets. [PDF]

FEBS J
Rickets, a bone disorder, was historically categorised into either nutritional (vitamin D deficiency) or genetic forms involving loss‐of‐function mutations in mineral metabolism. Recently, a new mechanism, type 3 rickets, was discovered to be caused by a gain‐of‐function mutation in CYP3A4 (Ile301Thr).
Senda T, Hirota Y.
europepmc   +2 more sources

Severe Symptomatic Hypophosphataemia as a Complication of Parenteral Iron Replacement

European Journal of Case Reports in Internal Medicine, 2020
Parental iron replacement is given to patients with severe iron deficiency or intolerance to oral iron. Hypophosphataemia has been reported to occur as a complication of parental iron replacement, and is postulated to be related to the carbohydrate ...
Kevin Kim-Jun Teh, Matthew Bingfeng Chuah, Shu-Wen Tay, Amanda Yuan-Ling Lim, Joan Joo-Ching Koo   +4 more
doaj   +1 more source