[Hypocalcemic vitamin D-dependent renal rickets].
Two siblings, female 10 years old, and male 15 years old, with the diagnosis of vitamin D-dependent rickets were studied. Another sibling, also with the same diagnosis, died of bronchopnemonia at about 7 months of age. Both patients developed rachitic manifestations since the first year of life, which persisted despite the administration of massive doses of vitamin D intermitently. Severe hypocalcemia, moderate hypophosphatemia and elevated serum alkaline phosphatase were the most characteristic biochemical findings. Both patients showed diminished renal tubular reabsorption of amino acids and phosphates. These alterations were reversible during I.V. calcium gluconate administration. The clinical biochemical and X-ray manifestations disappeared completely after one year of treatment with dihydrotaquisterol. Vitamin D-dependent rickets is an autosomal recessive disease, characterized by a hydroxylation defect of 25 hydroxycholecalciferol at the carbon 1 level, due to abscence of 25 hydroxy-D1-hydroxylase. Thus 1-25 Dihydroxycholecalciferol, the active form of vitamin D3 is not formed, resulting in depression of intestinal calcium absorption and reabsorption from the bones.
D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000627:therapeutic use; D000293:Adolescent; D000469:Alkaline Phosphatase / Q000378:metabolism; D002118:Calcium / Q000378:metabolism; D002648:Child; D012080:Chronic Kidney Disease-Mineral and Bone Disorder / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial; D007408:Intestinal Absorption; D008297:Male; D010758:Phosphorus / Q000378:metabolism; D011859:Radiography; D014807:Vitamin D / Q000378:metabolism
D014807:Vitamin D; D010758:Phosphorus; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase; D000469:Alkaline Phosphatase; D002118:Calcium
Raquitismo renal hipocalcémico dependiente de vitamina D