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

TLDR HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.

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

22 / 22 results

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

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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”

Parathyroid hormone-related protein helps control hair growth phases in mice.

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”

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

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”

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”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in 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”

The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

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”

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

research Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

412 citations , January 1998 in “Science”

A mutation in the human hairless gene causes alopecia universalis.

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”

Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.

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”

Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.

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”

Alopecia indicates more severe resistance to 1,25-dihydroxyvitamin D.

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”

A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.

research Calcitriol-Resistant Rickets With Alopecia

55 citations , May 1985 in “Archives of Dermatology”

Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.

research 1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia

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

A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.

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”

Patients with this syndrome can have different responses and worsening resistance to treatment over time.

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”

A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.

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”

The child's body didn't respond well to vitamin D, causing hair loss and rickets.

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

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

Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.

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