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Glossary Hereditary Vitamin D Resistant Rickets

genetic disorder causing poor bone development despite normal vitamin D levels

Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare genetic disorder where the body is unable to properly respond to vitamin D, leading to poor bone development and rickets despite normal or high levels of vitamin D in the blood. This condition is caused by mutations in the vitamin D receptor (VDR) gene, which impairs the body's ability to absorb calcium and phosphate, essential for healthy bone formation.

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research VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D

82 citations , April 1981 in “Clinical endocrinology”

This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.

research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

7 citations , June 2016 in “Bone Research”

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia

6 citations , November 2017 in “Scientific reports”

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

4 citations , January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets

107 citations , March 2014 in “BoneKEy Reports”

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

47 citations , February 1998 in “Journal of bone and mineral research”

In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.

research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

37 citations , August 2011 in “Journal of Bone and Mineral Research”

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.

research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

12 citations , September 2017 in “JDR Clinical & Translational Research”

In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.

research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings

5 citations , July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.”

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment, and Adjunctive Cinacalcet Therapy

research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy

1 citations , January 2024 in “Pediatric Endocrinology Diabetes and Metabolism”

In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.

research Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia

50 citations , October 1986 in “European journal of pediatrics”

This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.

research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

67 citations , August 2004 in “Endocrinology”

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor

50 citations , September 2009 in “Molecular Genetics and Metabolism”

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene

30 citations , October 2009 in “Journal of Veterinary Internal Medicine”

This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.

research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

10 citations , January 2014 in “Journal of Pediatric Endocrinology and Metabolism”

This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.

research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

10 citations , September 2015 in “PLoS ONE”

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation

research Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

1 citations , May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

24 citations , November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia”

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

37 citations , October 2006 in “Archives of Biochemistry and Biophysics”

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

research Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature

31 citations , September 2003 in “International Journal of Dermatology”

This report describes two Saudi brothers with Vitamin D-dependent rickets Type II and emphasizes the association of this disorder with alopecia.

research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

8 citations , December 2016 in “Hormone Research in Paediatrics”

This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.

research Hereditary vitamin D rickets: a case series in a family

6 citations , January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.

research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report

January 2024 in “Clinical, cosmetic and investigational dermatology”

In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.

research An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings

July 2022 in “International Journal of Contemporary Pediatrics”

This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.

research 4 Vitamin D resistance

13 citations , April 1994 in “Baillière's clinical endocrinology and metabolism”

This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.

research 1,25-dihydroxyvitamin D resistance, rickets, and alopecia

110 citations , November 1984 in “The American Journal of Medicine”

This study observed that children with a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor experienced spontaneous healing of rickets as they aged, despite persistent mineral imbalances during treatment.

research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses

12 citations , September 2014 in “Bone”

This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

6 citations , June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

29 citations , January 2003 in “KARGER eBooks”

In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.