TLDR A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
A Chinese Han family with one individual affected by hereditary vitamin D-resistant rickets (HVDRR) was studied, revealing a homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene. The proband exhibited symptoms including rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, elevated alkaline phosphatase, and epilepsy. Both parents were heterozygous for the mutation but showed no symptoms. Unlike other HVDRR cases, the patient responded well to oral calcium and low-dose calcitriol supplementation.
12 citations,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
107 citations,
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8 citations,
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151 citations,
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18 citations,
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107 citations,
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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.
6 citations,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
6 citations,
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5 citations,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
