Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia
| dc.contributor.author | Ersoy, B | |
| dc.contributor.author | Kiremitci, S | |
| dc.contributor.author | Isojima, T | |
| dc.contributor.author | Kitanaka, S | |
| dc.date.accessioned | 2024-07-18T12:01:07Z | |
| dc.date.available | 2024-07-18T12:01:07Z | |
| dc.description.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)(2)D-3. Patients with HVDRR are mostly treated using i.v. calcium therapy with a central catheter. However, central catheter-related complications have been reported. Patient: 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)(2)D-3 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. Interventions and Outcomes: 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. Conclusion: 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. (C) 2015 S. Karger AG, Basel | |
| dc.identifier.issn | 1663-2818 | |
| dc.identifier.other | 1663-2826 | |
| dc.identifier.uri | http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/8189 | |
| dc.language.iso | English | |
| dc.publisher | KARGER | |
| dc.subject | D-RECEPTOR | |
| dc.subject | 1,25-DIHYDROXYVITAMIN-D3 | |
| dc.subject | MUTATIONS | |
| dc.title | Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia | |
| dc.type | Article |