Serum parathyroid hormone (PTH) was measured in five children with untreated, active hypophosphatemic vitamin D-resistant rickets be[ore, during, and after an in[usion o[ calcium. During the calcium in[usion, serum PTH decreased while the tubular resorption of phosphate increased. Although these data clearly indicate that some degree o[ hyperparathyroidism accompanies the disease, it is apparen...

Plasma levels of 1,25 dihydroxy-vitamin D (1,25-(OH)2-D) were low in 3 children with hypophosphataemic vitamin D-resistant rickets (HVDRR) during childhood, but increased after very large doses (0.5 to 2 micrograms/kg per day) of 1 alpha-hydroxy-vitamin D (1 alpha-OH-D3). This treatment has two advantages. Firstly, hypercalcaemia is easily controlled by reducing the dose of 1 alpha-OH-D3 becaus...

Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where causal mutations are known in genes FGF23 or PHEX. We investigated an individual...

Juberg R C, Hayward J R. A new familial syndrome of oral, cranial, and digital anomalies. J Pediatr 1969; 74: 755-62. 2 Nevin N C, Henry P, Thomas P T S. A case of the orocraniodigital (Juberg-Hayward) syndrome. J Med Genet 1981; 18: 478-80. 3 Savage D C L, Swift P G F, Johnston P G B, Goldie D J, Murphy D. Combined test of anterior pituitary function in children. Arch Dis Child 1978; 53: 301-4...

Congenital rickets is considered a rare disease entity in the newborn period. Hypocalcemic seizure due to congenital rickets has been reported, but this symptom generally appears at the earliest at the end of the first month of life. A congenital rickets case presented unusually with seizure on the first day of life is reported, and the continuing occurrence of the disease with serious conseque...

In view of these contradictory findings the records of children admitted to the Royal Hospital for Sick Children during the last ten years suffering from these diseases were examined. In each case the diagnosis was established clinically and by skiagrams. The case reports and x-ray plates of 211 cases of active rickets under five years of age, fourteen cases of congenital syphilis and twenty of...

It has been shown that food insecurity is associated with poor diet quality and unfavourable health outcomes. However, little is known about the potential effects of food insecurity on the overall malnutrition status among children. In this study, we investigated the prevalence of food insecurity among 1583 elementary school students, aged 6-14 years, living in Chinese rural areas and examined ...

We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).