Cinacalcet treatment experience in hereditary vitamin D resistant rickets
-
Jesús Lucas
,
Jose Luis Badia
Abstract
Background
Hereditary vitamin D resistant rickets (HVDRR) is a bone disorder characterized by a phenotype of rickets with onset at early stage of life with elevated alkaline phosphatase, hypocalcemia, hypophosphatemia, hyperparathyroidism and elevated levels of 1,25-dihydroxyvitamin D (calcitriol) as a consequence of the resistance of the vitamin D receptor (VDR). Mutations in the DNA-binding domain of the VDR of the vitamin D receptor have been characterized by a lack of response to traditional treatment with calcium and calcitriol. Secondary hyperparathyroidism and hypophosphatemia are the main factors in its pathogenesis. Cinacalcet is a calciomimetic drug that reproduces the action of calcium by increasing the sensitivity of the calcium-sensitive receptors (CASR) of the parathyroid glands that regulate the secretion of the parathyroid hormone (PTH).
Case presentation
We describe its effectiveness and safety in a patient with HVDRR and review other published report cases in the literature. According to published experience, cinacalcet could be used as an adjunctive treatment for the HVDRR with mutations in the DNA-binding domain of the VDR refractory to traditional treatment. Due to lack of knowledge of possible effects of cinacalcet on CASR in the skeleton, long-term use should be avoided.
Conclusions
The optimal dose of cinacalcet for treatment of HVDRR ranges between 0.25 and 0.5 mg/kg/day. Serious side effects of cinacalcet have not been published in this type of patient, although we considered that a close monitoring is necessary in order to detect hypocalcemia.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: All authors state that they have no conflicts of interest.
Informed consent: Informed consent forms were obtained from the parents of the patients for publication of the cases, including images.
References
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- Frontmatter
- Original Articles
- Air occlusion in insulin pumps of children and adolescents with type 1 diabetes
- Gastrointestinal symptoms in pediatric patients with type 1 diabetes mellitus
- Adherence to multiple medications in the TODAY (Treatment Options for type 2 Diabetes in Adolescents and Youth) cohort: effect of additional medications on adherence to primary diabetes medication
- Ghrelin, obestatin and the ghrelin/obestatin ratio as potential mediators for food intake among obese children: a case control study
- Association between neck circumference and non-alcoholic fatty liver disease in Mexican children and adolescents with obesity
- Comparison between metabolically healthy obesity and metabolically unhealthy obesity by different definitions among Mexican children
- Evidence in obese children: contribution of tri-ponderal mass index or body mass index to dyslipidemia, obesity-inflammation, and insulin sensitivity
- Prevalence of metabolic syndrome and its associated factors in overweight and obese adolescents
- Cortisol secretion pattern in overweight/obese and normal-weight infants: a cross-sectional study
- Predictors of non-alcoholic fatty liver disease (NAFLD) among children with obesity
- Relative leptin deficiency in children with severe early-onset obesity (SEOO) – results of the Early-onset Obesity and Leptin – German-Polish Study (EOL-GPS)
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