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
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151 citations
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