title: Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia.
abstract: BACKGROUND
  Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations in the vitamin D receptor (VDR) gene, which result in end-organ resistance to 1,25-(OH)2D3. PATIENTs with HVDRR are mostly treated using i.v. calcium therapy with a central catheter. However, central catheter-related complications have been reported.
  
  
  METHODS
  The patient was a 3-year-old boy presenting with waddling gait and alopecia. He had hypocalcemia [8 mg/dl (2 mmol/l)], hyperparathyroidism (1,232 ng/l), and elevated 1,25-(OH)2D3 levels (>250 pmol/l). DNA sequence analyses of the VDR gene showed a homozygous C-T transition at codon 152, resulting in a non-sense mutation in exon 5.
  
  
  RESULTS
  The patient was initially treated with calcitriol (80 ng/kg/day) and high-dose oral calcium (150 mg/kg/day) for one year. At the end of the first year, intermittent (5 days per month) i.v. calcium therapy without a central catheter was initiated because of insufficient clinical and radiological improvement. After 2 years of intermittent i.v. calcium therapy, there was a clear improvement based on clinical progress and on X-ray and biochemical findings. No peripheral complications were reported either.
  
  
  CONCLUSIONS
  HVDRR with a non-sense mutation in the ligand-binding domain and alopecia was successfully treated with intermittent i.v. calcium without a central catheter.
authors.affiliation: Division of Pediatric Endocrinology and Metabolism, Celal Bayar University, School of Medicine, Manisa, Turkey.
authors.forename: Betul
authors.initials: B
authors.lastname: Ersoy
authors.forename: Seniha
authors.initials: S
authors.lastname: Kiremitci
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Isojima
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kitanaka
mesh_terms: D061605:Administration, Intravenous; D000505:Alopecia / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D002118:Calcium / Q000008:administration & dosage / Q000627:therapeutic use*; D002675:Child, Preschool; D004334:Drug Administration Schedule; D053098:Familial Hypophosphatemic Rickets / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D018167:Receptors, Calcitriol / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D018167:Receptors, Calcitriol; D002118:Calcium