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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. 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)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. 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.

Objectives: To determine differences in ambulatory blood pressure (ABP) parameters between office normotensive obese and non-obese children and to evaluate correlations of ABP parameters with insulin resistance and the lipid profile. Subjects and Methods: Thirty-eight obese [body mass index (BMI) above the 95th percentile] and 38 non-obese children aged 9-17 years were recruited. All subjects who were normotensive during office visits and who underwent 24-hour ABP monitoring were evaluated. Insulin resistance and the lipid profile were also evaluated. Results: The mean daytime, night-time and 24-hour systolic blood pressure (SBP) and the daytime and 24-hour diastolic blood pressure (DBP) in normotensive obese children were significantly higher compared to the values in non-obese children (p < 0.05). There was no difference in the frequency of nocturnal non-dippers and nocturnal hypertension (night-time SBP at or above the 95th percentile) between the two groups (p > 0.05). Children with night-time SBP at or above the 95th percentile and non-dippers had higher atherosclerotic markers than children with night-time SBP below the 95th percentile and dippers (p < 0.05). In logistic regression analysis, the low-density lipoprotein cholesterol (LDL-C):high-density lipoprotein cholesterol (HDL-C) ratio and night-time SBP had significantly positive associations with being obese in adolescents (OR 6.54, 95% CI 1.15-37.07, p = 0.03, and OR 1.1, 95% CI 1.01-1.19, p = 0.02, respectively). Conclusion: Normotensive obese children had higher ABP parameters. A high LDL-C:HDL-C ratio and night-time SBP were associated with an increased risk of being obese. High LDL-C:HDL-C ratios and total cholesterol:HDL-C levels in children and adolescents may be risk factors for night-time hypertension.