We report the development of severe tertiary hyperparathyroidism in three girls treated for familial hypophosphatemic rickets and characterize parathyroid function in vivo and in vitro. All patients had been previously treated with relatively large doses of inorganic phosphorus (125 mm/day) and ergocalciferol or calcitriol for several years and had radiographic evidence of long-standing hyperpa...

X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate an...

To cite: Kumar R, Balachandran K, Kamalanathan S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208116 DESCRIPTION A 55-year-old man presented with short stature, progressive bilateral leg deformity (figure 1) and loss of all teeth since childhood. Similar bony deformities were present in his mother, elder brother and both his daughters. His only son ...

A man with hereditary hypophosphatemic rickets presented with seizures and coma. Brain MRI revealed edema typical of posterior reversible encephalopathy syndrome (PRES) and ECG showed ST elevations (figure). Coronary angiography was normal. Blood pressure was 165/90 mm Hg on admission; other known causes of PRES were absent. Severe hypercalcemia (3.83 mmol/L) was detected while parathyroid horm...

Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively. We present the identification of an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene causing autosomal-recessiv...

Abstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 have been found to cause hypophosphatemic rickets. The authors report a clinical case of 4-year-old girl with unremarkable family history, who presented failure thrive and bowing legs. Laboratory tests showed hypophosphatemia, elevated alkalin...

The treatment for hypophosphatemic rickets in children includes phosphate and vitamin D preparations. In children, this regimen significantly improves symptoms, while a treatment for adult patients has not been established. We therefore investigated the clinical courses of 15 adult patients who discontinued therapy when final height was achieved in order to assess the necessity of treatment in ...