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At least 1,081 records · Page 60Linked to original sources
PubMed1986

Metacarpal measurements in X-linked hypophosphataemic rickets.

In 15 girls and 7 boys with hypophosphataemic vitamin D-resistant rickets, midshaft diameter, combined cortical thickness, cortical area and metacarpal length were determined in the second metacarpal on radiographs of the left hand. The values obtained were compared with age-matched and height-matched controls. In a longitudinal study the same bone measurements were taken in these 22 patients and in additional 3 boys. The metacarpal diameter in the patients was increased whereas the combined cortical thickness was decreased. The former feature appeared to have its onset in early childhood. Cortical area was normal for age and increased for height, which was taken to indicate a normal or increased bone mass in these children. Metacarpal length was normal for age and height in the boys and increased for height but still within the normal range in girls. This is in agreement with the normal arm-span that has been found in these children.

Adolescent↗
PubMed1986

[Type III osteogenesis imperfecta associated with hypophosphatemic vitamin D-resistant rickets].

In a 7 year old girl presenting with bone deformities, dwarfism, and a history of recurrent fractures osteogenesis imperfecta had been diagnosed at birth. Although she had been hospitalized several times, radiologic signs of rickets remained unnoticed. Laboratory data proved existence of hypophosphatemic vitamin D-resistant type of rickets, which was effectively treated with 1 alpha-hydroxycholecalciferol and phosphorus substitution. The combination of osteogenesis imperfecta type III and hypophosphatemic rickets may be coincident. It proves, however, the necessity to consider the possible simultaneous occurrence of two rare diseases. The therapeutic consequences could be important.

Child↗
PubMed1986

[Recent knowledge about the significance of 1,25-hydroxyvitamin D and the development of genetically-induced rickets].

Receptors for the binding of 1,25-hydroxyvitamin D are present in many cell types and are of importance for the regulation of the transcription and function. The 1,25-hydroxyvitamin-D-receptor complexes are in the cells under physiological conditions mainly in the nucleus. The 1,25-hydroxyvitamin D already in a very low concentration in the bone cells further the replication of the DNA and the division of the cells, in the lactotrophic cells of the anterior pituitary the secretion of prolactin, in the B-cells the secretion of insulin and in the epidermis the formation of keratin. In the parathyroid gland it restricts the formation of preproparathormone and in the cultures of lymphocytes the division of cells evoked by the addition of mitogens. The multiplication of various forms of tumour cells and their metastatic spread is inhibited by the administration of 1,25-hydroxyvitamin D3. The equipment with receptors for the 1,25-hydroxyvitamin D is regulated. Biochemical aspects of the development of the 3 different forms of genetically conditioned rachitis are shown.

Calcitriol↗
PubMed1987

1 alpha-hydroxyvitamin D3 treatment of three patients with 1,25-dihydroxyvitamin D-receptor-defect rickets and alopecia.

Three patients with clinically different severities of vitamin D-dependent rickets, type II, with alopecia, which is 1,25-dihydroxyvitamin D-receptor-defect rickets and is particularly resistant to treatment with calciferol analogues, were treated with large doses of 1 alpha-hydroxyvitamin D3 (1 alpha-(OH)D3) and 2 g of calcium lactate. Except for the alopecia, all of the abnormalities of patients 1 and 2 were reversed by treatment with 3 micrograms/kg/d of 1 alpha-(OH)D3, and those of patient 3, who had the severest manifestations, were reversed by treatment with 6 micrograms/kg/d. The serum 24,25-dihydroxyvitamin D concentrations of the three patients were low before treatment and those of patients 1 and 2 increased during treatment. These findings suggest that in patients 1 and 2, 25-hydroxyvitamin D-24-hydroxylase was stimulated via a 1,25-dihydroxyvitamin D-receptor-mediated system by treatment with 1 alpha-(OH)D3.

24,25-Dihydroxyvitamin D 3↗
PubMed1987

Mineral uptake by the femora of older female X-linked hypophosphatemic (HYP) mice but not older male HYP mice.

X-linked hypophosphatemic (Hyp) mice are a model of human sex-linked vitamin D-resistant rickets. Young adult Hyp mice are characterized by osteomalacia and decreased bone mineral content. However, older heterozygous Hyp female mice increase in bone mineral content with age so that by one year of age the bone mass/mm femoral length equals or exceeds normal females. To test for the occurrence of this mineral accretion in Hyp male mice and in homozygous Hyp female mice, femora from all 3 Hyp genotypes as well as normal male and female mice were analyzed at various ages from one to 52 weeks of age. Compared to normal mice, all three Hyp genotypes were depressed in bone ash, femoral length, and ash/length ratio at 13 weeks of age. After that age the femora of both heterozygous and homozygous Hyp females showed a slow mineral accretion and, by 52 weeks of age, a normal ash/length ratio. However, the femora of Hyp males, as well as those of normal males, failed to increase in bone mineral content or ash/length ratio after 13 weeks of age. The differences between male and female Hyp mice could not be explained by differences in the plasma levels of calcium, phosphate, or alkaline phosphatase. Increased bone mineral content in older Hyp mice was seen in both heterozygous and homozygous females but not in hemizygous males. Thus, the basis for this increase is not incomplete dominance of the Hyp gene in females nor the Lyon hypothesis. The accretion of mineral in older female Hyp mice despite lifelong reduced plasma phosphate levels suggests that there are factors other than phosphate that also regulate mineral accretion in this bone disease.

Aging↗