Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFMany adolescents with X-linked hypophosphatemia (XLH) currently have to stop treatment with burosumab at the end of skeletal growth. We describe the experience of a cohort of adolescents with XLH before, during, and after stopping burosumab (median treatment duration 37.5 months).
View Article and Find Full Text PDFThe COVID-19 pandemic led to unprecedented changes in behaviour. To estimate if these persisted, a final round of the CoMix social contact survey was conducted in four countries at a time when all societal restrictions had been lifted for several months. We conducted a survey on a nationally representative sample in the UK, Netherlands (NL), Belgium (BE), and Switzerland (CH).
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