dihydrotachysterol and Hypophosphatemia--Familial

Since the introduction of irradiated ergosterol into our food supply, nutritional vitamin D-deficiency rickets has become an uncommon disease. However, skeletal disorders due to abnormalities of vitamin D function still occur. These disorders can now be classified more exactly into two groups: those in which there is a deficiency of the active metabolite of vitamin D, 1,25-dihydroxyvitamin D, and those in which there is an abnormality of renal tubular function resulting in renal hypophosphatemia despite normal vitamin D metabolism. The various entities of these two groups are described and the theoretical basis of their treatment given.

Topics: Dihydrotachysterol; Fanconi Syndrome; Glycosuria; Humans; Hyperparathyroidism; Hyperparathyroidism, Secondary; Hypophosphatemia, Familial; Infant; Osteomalacia; Phosphates; Renal Aminoacidurias; Rickets; Vitamin D; Vitamin D Deficiency

Topics: Animals; Cholecalciferol; Chronic Kidney Disease-Mineral and Bone Disorder; Dihydrotachysterol; Dihydroxycholecalciferols; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Rats; Rickets; Vitamin D; Vitamin D Deficiency

X-linked hypophosphatemia is the most common inherited cause of rickets. Current therapy for this disorder includes vitamin D and phosphate supplementation; however, phosphate therapy has been associated with nephrocalcinosis. The purpose of this study is to evaluate the effect of oral phosphate therapy on growth in patients with X-linked hypophosphatemia treated with either calcitriol or dihydrotachysterol (vitamin D).. We retrospectively evaluated the prepubertal growth of 36 children with X-linked hypophosphatemia. The height standard deviation score (Z-score) of patients initially treated with vitamin D alone and the Z-scores of patients treated with vitamin D and phosphate therapy were compared. In addition, the growth of therapy were compared. In addition, the growth of patients treated with vitamin D was compared with that of patients treated with vitamin D and phosphate from the outset of therapy.. Patients treated with vitamin D alone for 5.36 +/- 2.18 years had an improvement in Z-score from -3.1 +/- 1.10 to -2.49 +/- 0.66 SDS, P < .05. Adding phosphate therapy for patients initially treated with vitamin D alone for 4.83 +/- 2.99 years did not further improve Z-score (-2.49 +/- 0.66 vs -2.35 +/- 0.83). Initial therapy with vitamin D and phosphate for 4.33 +/- 2.19 years also improved Z-score, (-2.84 +/- 1.02 vs -1.98 +/- 0.82, P < .05). The change in Z-score was similar to the group treated with vitamin D alone compared with the group treated initially with vitamin D and phosphate (0.65 +/- 0.54 vs 0.85 +/- 0.65, respectively).. These data demonstrate that both vitamin D alone and in combination with phosphate improved linear growth. Adding oral phosphate for children initially treated with vitamin D alone did not improve Z-score. Initial therapy with vitamin D and vitamin D plus phosphate produced similar changes in linear growth.

Topics: Administration, Oral; Calcitriol; Child, Preschool; Dihydrotachysterol; Drug Therapy, Combination; Growth Disorders; Humans; Hypophosphatemia, Familial; Phosphates; Retrospective Studies; Severity of Illness Index

Failure to diagnose and treat hypophosphatemic rickets during childhood resulted in stunted growth and progressive deformities of the lower limb. When the deformities were treated surgically, recurrent deformity and non-union of osteotomies developed, and further major opeative procedures were required to remedy these complications. Treatment from early childhood with oral phosphate and vitamin D improved the rate of growth and controlled the progression of bowleg deformity. Residual varus deformity was corrected by osteotomy through the proximal tibial metaphysis at skeletal maturity, when the results were predictable. Genu valgum deformity was corrected by stapling the medial part of the distal femoral epiphysis prior to skeletal maturity. With early postoperative mobilization and adequate medication, the complications of delayed tibial union and failure to correct the femoral valgus deformity were avoided.

Topics: Administration, Oral; Adolescent; Adult; Child; Cholecalciferol; Dihydrotachysterol; Female; Growth; Humans; Hypophosphatemia, Familial; Male; Osteotomy; Phosphates

Topics: Chemical Phenomena; Chemistry; Chronic Kidney Disease-Mineral and Bone Disorder; Dihydrotachysterol; Epilepsy; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Osteomalacia; Rickets; Vitamin D; Vitamin D Deficiency

Topics: Anticonvulsants; Cholecalciferol; Dihydrotachysterol; Dihydroxycholecalciferols; Ergocalciferols; Genes, Dominant; Genes, Recessive; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Rickets; Sex Chromosomes; Vitamin D

Topics: Acidosis, Renal Tubular; Ammonia; Child, Preschool; Dihydrotachysterol; Fanconi Syndrome; Glomerular Filtration Rate; Humans; Hydrogen-Ion Concentration; Hypophosphatemia, Familial; Infant; Kidney Function Tests; Male; Parathyroid Hormone; Phosphates; Radiography; Renal Aminoacidurias; Vitamin D

Topics: Alkaline Phosphatase; Anticonvulsants; Calcium; Cerebral Palsy; Child; Child, Institutionalized; Child, Preschool; Dihydrotachysterol; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Intellectual Disability; Male; Phosphorous Acids; Radiography; Time Factors; Vitamin D; Wrist

Topics: Administration, Oral; Child; Child, Preschool; Dihydrotachysterol; Humans; Hypophosphatemia, Familial; Male; Radiography; Time Factors

Topics: Adult; Alkaline Phosphatase; Calcium; Child; Cholecalciferol; Dihydrotachysterol; Humans; Hydroxycholecalciferols; Hydroxyproline; Hypophosphatemia, Familial; Male; Phosphorus

Topics: Adolescent; Dihydrotachysterol; Ergocalciferols; Female; Humans; Hypocalcemia; Hypoparathyroidism; Hypophosphatemia, Familial; Infant; Male; Protein-Losing Enteropathies; Pseudohypoparathyroidism

Topics: Child; Child, Preschool; Dihydrotachysterol; Humans; Hypophosphatemia, Familial; Male

Topics: Calcium; Child; Child, Preschool; Dihydrotachysterol; Female; Humans; Hypercalcemia; Hypocalcemia; Hypophosphatemia, Familial; Infant; Male; Rickets; Switzerland; Vitamin D