Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

    January 2003 in “ KARGER eBooks
    Peter J. Malloy, David Feldman
    TLDR HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
    The document provided an overview of rickets, a childhood disorder historically prevalent during the industrial revolution due to vitamin D deficiency and insufficient sunlight exposure. It highlighted that rickets has become endemic again, particularly in Western societies, due to increased breastfeeding, poor nutritional status, and dark skin, which are risk factors. The text emphasized that rickets is not solely caused by vitamin D deficiency but also by calcium deficiency, affecting both developing and affluent societies. Advances in molecular biology have allowed for detailed studies of vitamin D in human and animal models. The volume presented the latest research on vitamin D and rickets, covering historical perspectives, bone metabolism, and molecular genetics, and aimed to inform pediatricians, endocrinologists, and health care specialists about disease prevention.
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