TLDR Patients with this syndrome can have different responses and worsening resistance to treatment over time.
Two unrelated children with alopecia and rickets resistant to 1,25-dihydroxyvitamin D (vitamin D-dependency type II) were treated with high doses of vitamin D3 derivatives for extended periods. Despite high serum levels of 1,25-(OH)2D, one child showed no improvement, with her skin fibroblasts displaying low nuclear uptake of the vitamin. The other child initially responded well but relapsed after 6 years, with her fibroblasts showing unmeasurable nuclear uptake. The study concluded that patients with this syndrome can exhibit different clinical responses and cellular defects, and resistance to treatment may worsen over time.
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.
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.
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.
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.
146 citations,
January 2004 in “Hormones” Human skin acts like a hormone-producing organ, making and managing various hormones important for skin and hair health.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
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.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
