vitamin-d-2 and Hypophosphatasia

25OHD, 1,25,-(OH))2D, and 24,25-(OH)2D were assayed in the serum of 16 patients with the infantile, childhood, or adult form of hypophosphatasia. Except for diminished 1,25-(OH)2D and elevated 24,25-(OH)2D levels in 2 infants (which could be attributed to nonparathyroid hormone-mediated hypercalcemia), the mean circulating level of each vitamin D metabolite was normal in the 3 patient groups. Abnormalities in vitamin D metabolism do not appear to contribute to the pathogenesis of this rare hereditary form of rickets or osteomalacia, which occurs despite normal circulating calcium, inorganic phosphate, and vitamin D metabolite levels.

Topics: 25-Hydroxyvitamin D 2; Adult; Calcitriol; Child; Child, Preschool; Ergocalciferols; Female; Humans; Hypophosphatasia; Infant; Male; Middle Aged

A patient with Wilson's disease presented at the age of 41 with a neurological defect and gross osteomalacia secondary to a defect of renal tubular reabsorption. He also showed the unusual features of a renal stone in the presence of the Fanconi syndrome and a relatively low alkaline phosphatase level, possibly due to the additional inherited defect of hypophosphatasia. During four years of treatment with penicillamine and calciferol clinical improvement was spectacular. Details of amino-acid clearances before and after treatment are given, and the results suggest that, as in the brain and the liver, the function of the distal renal tubules may be restored in Wilson's disease when copper is removed.

Topics: Adult; Alkaline Phosphatase; Amino Acids; Ergocalciferols; Fanconi Syndrome; Hepatolenticular Degeneration; Humans; Hypophosphatasia; Kidney; Kidney Calculi; Male; Metabolic Clearance Rate; Neurologic Manifestations; Osteomalacia; Penicillamine; Sex Chromosome Aberrations