Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route
-
Saygın Abalı
,
Mayuko Tamura
Abstract
Background
Hereditary vitamin D-resistant rickets (HVDRR) is caused by vitamin D receptor (VDR) defects. Patients with HVDRR do not respond to standard doses of calcitriol and oral calcium (Ca) treatment and need to be treated with intravenous Ca (IV-Ca) via a central route. However, central catheter-related complications can cause significant morbidity.
Case presentation
Four unrelated patients with HVDRR presenting with rickets and alopecia totalis were administered intermittent IV-Ca treatment (2–5 times/week) through a peripheral route. No complications such as infection, extravasation or arrhythmias were detected upon peripheral infusion. Peripheral 1–22 months’ duration of IV-Ca normalized parathyroid hormone (PTH) and alkaline phosphatase (ALP) in all patients, after which, oral Ca of 200–400 mg/kg/day and calcitriol of 0.5 μg/kg/day were sufficient to maintain normal PTH levels. Molecular studies on the VDR gene showed a previously reported homozygous c.454C > T (p.Q152*) pathogenic variant in two patients. Two novel homozygous variants in the other two patients were detected: (1) c.756-2A > G, which affects the splice acceptor site, and (2) c.66dupG (p.I23Dfs*20) variant leading to a frameshift that results in a premature stop codon.
Conclusions
Peripheral IV-Ca treatment is an effective and practical alternative treatment mode that provides dramatic clinical benefit in patients with HVDRR.
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: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2020 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- Prevalence of obesity and overweight in Iranian students: a systematic review and meta-analysis
- Original Articles
- Trends in pediatric obesity management, a survey from the Pediatric Endocrine Society Obesity Committee
- Utility of MR proton density fat fraction and its correlation with ultrasonography and biochemical markers in nonalcoholic fatty liver disease in overweight adolescents
- Vitamin D status and its relation to insulin resistance in a Mexican pediatric population
- Elevated serum uric acid, hyperuricaemia and dietary patterns among adolescents in mainland China
- Is there a relationship between the dietary inflammatory index and metabolic syndrome among adolescents?
- New insights into the expression of androgen and estrogen receptors of the appendix testis in congenital cryptorchidism
- General properties of autoimmune thyroid diseases and associated morbidities
- Comparison of leptin levels in neonates born to mothers with high or low gestational weight gain
- Percentile values of serum zinc concentration and prevalence of its deficiency in Iranian children and adolescents: the CASPIAN-V study
- Nine-year overview of dyslipidemia management in children with heterozygous familial hypercholesterolemia: a university hospital outpatient lipid clinic project in Northwestern Greece
- Gesell Developmental Schedules scores and the relevant factors in children with Down syndrome
- Letters to the Editor
- Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub’s flawed theories about child abuse and metabolic bone disease
- Reply of Miller and Ayoub to Brown et al. Letter to the Editor
- Case Reports
- Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families
- Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route
- Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
- Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency
- Autoimmune polyglandular syndrome type II with co-manifestation of Addison’s and Graves’ disease in a 15-year-old boy: case report and literature review
Artikel in diesem Heft
- Frontmatter
- Review
- Prevalence of obesity and overweight in Iranian students: a systematic review and meta-analysis
- Original Articles
- Trends in pediatric obesity management, a survey from the Pediatric Endocrine Society Obesity Committee
- Utility of MR proton density fat fraction and its correlation with ultrasonography and biochemical markers in nonalcoholic fatty liver disease in overweight adolescents
- Vitamin D status and its relation to insulin resistance in a Mexican pediatric population
- Elevated serum uric acid, hyperuricaemia and dietary patterns among adolescents in mainland China
- Is there a relationship between the dietary inflammatory index and metabolic syndrome among adolescents?
- New insights into the expression of androgen and estrogen receptors of the appendix testis in congenital cryptorchidism
- General properties of autoimmune thyroid diseases and associated morbidities
- Comparison of leptin levels in neonates born to mothers with high or low gestational weight gain
- Percentile values of serum zinc concentration and prevalence of its deficiency in Iranian children and adolescents: the CASPIAN-V study
- Nine-year overview of dyslipidemia management in children with heterozygous familial hypercholesterolemia: a university hospital outpatient lipid clinic project in Northwestern Greece
- Gesell Developmental Schedules scores and the relevant factors in children with Down syndrome
- Letters to the Editor
- Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub’s flawed theories about child abuse and metabolic bone disease
- Reply of Miller and Ayoub to Brown et al. Letter to the Editor
- Case Reports
- Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families
- Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route
- Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
- Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency
- Autoimmune polyglandular syndrome type II with co-manifestation of Addison’s and Graves’ disease in a 15-year-old boy: case report and literature review
