A Rare Case of Vitamin D Dependent Rickets Type II: A Case Report
August 2019
in “
International journal of contemporary pediatrics
”
TLDR A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
In 2019, a case report detailed a 3.5-year-old male child diagnosed with Vitamin D-dependent type II rickets (VDDRII), a rare autosomal recessive disorder characterized by a mutation in the vitamin D receptor gene. This mutation causes resistance to 1,25(OH)2 vitamin D3, resulting in refractory rickets and growth retardation within the first year of life, often accompanied by alopecia totalis. The child's alopecia and rickets showed partial improvement following treatment with supra physiological doses of 1,25(OH)2 vitamin D3. However, the condition typically has a poor response to vitamin D due to target organ resistance, and the treatment usually involves high doses of oral or intravenous calcium in addition to vitamin D. The response of alopecia to the treatment is generally poor.
