TLDR Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
The study investigated the induction of 25-hydroxyvitamin D3-24-hydroxylase (24-OHase) by 1,25-dihydroxyvitamin D3 in skin fibroblasts from 10 normal subjects and 4 patients with vitamin D-dependent rickets type II (DD II). In normal fibroblasts, 24-OHase induction was detectable at low concentrations of 1,25(OH)2D3, while fibroblasts from DD II patients showed abnormal induction. Two patients' fibroblasts required much higher concentrations of 1,25(OH)2D3 for detectable induction, correlating with their partial in vivo response to calciferols. The other two patients showed no induction and no calcemic response. The study concluded that measuring 24-OHase induction is a sensitive test for identifying defects in the 1,25(OH)2D pathway and predicting response to calciferol therapy.
88 citations
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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.
82 citations
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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.
82 citations
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170 citations
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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.
July 2022 in “International Journal of Contemporary Pediatrics” Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
47 citations
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October 1989 in “European Journal of Pediatrics” Two siblings stayed rickets-free for 14 years after stopping treatment.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
18 citations
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April 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
