title: [Adult-onset sex-linked familial hypophosphatemic osteomalacia].
abstract: Three patients (a grandmother, her daughter and her grandson) belonging to a 23-number-kindred of five generations suffered from adult-onset, X-linked, familiar hypophosphataemic osteomalacia. According to the familiar anecdotes the great-grandmother also had the same disease. The clinical diagnosis was documented by X-ray pictures, scintigraphic and bone histological results, the laboratory diagnosis was proven by blood and urine analyses examined after phosphate loading. The youngest, 24-year-old patient was treated with daily 3 g phosphate and high doses of calcitriol for 2 years. As a new feature of our therapy, per os treatment with 1.25 micrograms calcitriol was supplemented by daily 2-4 micrograms iv. bolus calcitriol for one week every month. The osteomalacia, causing serious symptoms and complaints, healed. Our treatment seemed to be safe, as renal functions, serum total and ionized calcium and PTH levels (including midnight values) remained in normal range. On the basis of our results this disease can be treated by administration of high doses of phosphate, provided that development of hyperparathyroidism is prevented by the coadministration of high doses of calcitriol.
authors.affiliation: Fövárosi Uzsoki utcai Kórház Nefrológia-Hypertonia 3. sz. Belgyógyászati Osztály Budapest.
authors.forename: J
authors.initials: J
authors.lastname: Radó
authors.forename: A
authors.initials: A
authors.lastname: Haris
authors.forename: B
authors.initials: B
authors.lastname: Szebenyi
mesh_terms: D000293:Adolescent; D000328:Adult; D002117:Calcitriol / Q000008:administration & dosage*; D002118:Calcium / Q000378:metabolism; D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010018:Osteomalacia / Q000188:drug therapy / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D010710:Phosphates / Q000008:administration & dosage* / Q000378:metabolism; D014807:Vitamin D / Q000008:administration & dosage; D014960:X Chromosome
chemical_list: D010710:Phosphates; D014807:Vitamin D; D002117:Calcitriol; D002118:Calcium