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

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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.

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Research cited in this study

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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.