Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

January 2003 in “ KARGER eBooks ”

Peter J. Malloy, David Feldman

rickets vitamin D deficiency calcium deficiency bone metabolism molecular genetics 1,25-Dihydroxyvitamin D vitamin D calcium

From the encyclopedia

Vitamin D →

vitamin you should probably be taking for general health might also help your hair a little

calcium →

Studysummary 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.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

The document provided an overview of rickets, a childhood disorder historically prevalent during the industrial revolution due to vitamin D deficiency and insufficient sunlight exposure. It highlighted that rickets has become endemic again, particularly in Western societies, due to increased breastfeeding, poor nutritional status, and dark skin, which are risk factors. The text emphasized that rickets is not solely caused by vitamin D deficiency but also by calcium deficiency, affecting both developing and affluent societies. Advances in molecular biology have allowed for detailed studies of vitamin D in human and animal models. The volume presented the latest research on vitamin D and rickets, covering historical perspectives, bone metabolism, and molecular genetics, and aimed to inform pediatricians, endocrinologists, and health care specialists about disease prevention.

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Research cited in this study

23 / 23 results

research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis

144 citations , December 2004 in “Molecular Endocrinology”

This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.

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 Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling

215 citations , September 2003 in “Journal of Biological Chemistry”

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

Hair-Cycle-Dependent Expression of Parathyroid Hormone-Related Protein and Its Type I Receptor: Evidence for Regulation at the Anagen to Catagen Transition

research Hair-Cycle-Dependent Expression of Parathyroid Hormone-Related Protein and Its Type I Receptor: Evidence for Regulation at the Anagen to Catagen Transition

52 citations , May 2003 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that overexpression of parathyroid hormone-related protein in mice resulted in 30–40% shorter hair due to premature transition into the catagen phase of the hair cycle.

research Tryptophan Missense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25-Dihydroxyvitamin D

47 citations , September 2002 in “Journal of Bone and Mineral Research”

This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

research Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia

115 citations , December 2001 in “Endocrinology”

This study found that restoring vitamin D receptor expression specifically in the keratinocytes of VDR null mice prevented alopecia and enhanced hair follicle response during anagen initiation.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.

research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

83 citations , October 1998 in “The American Journal of Human Genetics”

A specific gene mutation causes complete hair loss in an Irish Traveller family.

research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed

1308 citations , March 1998 in “Journal of bone and mineral research”

This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.

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 Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

412 citations , January 1998 in “Science”

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.

research Overexpression of Parathyroid Hormone-Related Protein in the Skin of Transgenic Mice Interferes with Hair Follicle Development

211 citations , February 1994 in “Proceedings of the National Academy of Sciences”

This study found that overexpression of parathyroid hormone-related peptide in transgenic mice skin disrupted normal hair follicle development, suggesting a role for the peptide in the early stages of follicle formation.

research The Combined Use of Intravenous and Oral Calcium for the Treatment of Vitamin D Dependent Rickets Type II

52 citations , August 1993 in “Clinical endocrinology”

This study found that intravenous high dose calcium infusions followed by high dose oral calcium effectively treated vitamin D dependent rickets type II, leading to complete biochemical and radiological healing and improved growth in two patients.

research Two Siblings With Vitamin-D-Dependent Rickets Type II: No Recurrence Of Rickets For 14 Years After Cessation Of Therapy

47 citations , October 1989 in “European Journal of Pediatrics”

Two siblings stayed rickets-free for 14 years after stopping treatment.

research Analysis of the Relation Between Alopecia and Resistance to 1,25-Dihydroxyvitamin D

100 citations , October 1986 in “Clinical Endocrinology”

This study found that alopecia in hereditary resistance to 1,25(OH)2D may indicate a more severe form of the condition, associated with earlier diagnosis and different responses to calciferol therapy.

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 Calcitriol-Resistant Rickets With Alopecia

55 citations , May 1985 in “Archives of Dermatology”

This study found that alopecia in four children was linked to severe calcitriol-resistant rickets, suggesting this condition should be considered among inherited hair growth disorders.

research Vitamin D-Dependent Rickets Type II: Defective Induction of 25-Hydroxyvitamin D3-24-Hydroxylase by 1,25-Dihydroxyvitamin D3 in Cultured Skin Fibroblasts

81 citations , March 1985 in “Journal of Clinical Investigation”

This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.

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 Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects

88 citations , October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

In this study, distinct clinical responses and long-term resistances were observed in two pediatric patients with vitamin D-dependency type II, associated with abnormalities in their skin fibroblast interactions with 1,25-(OH)2D3.

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 An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D

82 citations , October 1980 in “The Journal of Clinical Endocrinology & Metabolism”

This case study describes a child with an unusual form of vitamin D-dependent rickets, characterized by alopecia and a deficient response to active vitamin D.

research Rickets With Alopecia: An Inborn Error of Vitamin D Metabolism

170 citations , May 1979 in “The journal of pediatrics/The Journal of pediatrics”

This report describes two sisters with rickets and alopecia unresponsive to high doses of vitamin D2, where oral phosphorus supplements led to significant clinical improvement.