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 condition.
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Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
Front Endocrinol (Lausanne)
March 2025
Department of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.
Introduction: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder caused by an inactivating mutation in the gene, while Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder resulting from a pathogenic mutation in the gene. Both genetic disorders are relatively rare. This report presents a patient with both FHH and GS, exhibiting unique clinical and genetic complexities.
View Article and Find Full Text PDFDisease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.
BMJ Paediatr Open
March 2025
Director, Shanghai Health Development Research Center (Shanghai Medical Information Center), Shanghai, Shanghai, China.
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 economic burden for children and their families compared with the general population, but evidence from China is scarce. This study aimed to comprehensively explore the burden and HRQoL of XLH children in China.
View Article and Find Full Text PDFX-linked hypophosphataemia.
Tidsskr Nor Laegeforen
March 2025
Seksjon for endokrinologi, Oslo universitetssykehus, og, Sykehuset Innlandet.
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 condition.
View Article and Find Full Text PDFX-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment.
J Paediatr Child Health
February 2025
Child Health Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, Australia.
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, however there are likely other non-FGF23 mediated mechanisms contributing to disease. Burosumab is an FGF23 inhibiting monoclonal antibody that has been shown to be significantly more effective in treating X linked hypophosphataemia than previously available treatment ("conventional therapy" with oral phosphate and active vitamin D).
View Article and Find Full Text PDFHypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.
Endocrine
February 2025
Division of Medical Genetics, Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy.
Purpose: Rickets is a rare bone disorder due to altered calcium, vitamin D, and phosphorus metabolism, caused by nutritional deficiencies or, in 13% of cases, genetic origin. Few data are available on an Italian cohort of rickets.
Methods: Twenty-four patients with confirmed low serum phosphorus levels and reduced renal tubular phosphate reabsorption were recruited from different tertiary care centres over the last 5 years.
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