Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene

    October 2009 in “ Journal of Veterinary Internal Medicine ”
    D. N. Levine, Zhou Y, R.J. Ghiloni, E.L. Fields, Birkenheuer Aj, J.L. Gookin, I.D. Roberston, Malloy Pj, D. Feldman, D. N. Levine, Zhou Y, R.J. Ghiloni, E.L. Fields, Birkenheuer Aj, J.L. Gookin, I.D. Roberston, Malloy Pj, D. Feldman
    TLDR A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
    The study documented a case of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR) in a Pomeranian dog, caused by a novel mutation in the vitamin D receptor (VDR) gene. This mutation led to the dog's inability to respond to 1,25(OH)2D3, resulting in symptoms such as hypocalcemia, secondary hyperparathyroidism, rickets, and alopecia. Despite treatment, the dog showed persistent symptoms, including seizures and skeletal deformities, leading to euthanasia. The mutation was not found in an unaffected half-sibling, confirming its role in the disease. The study highlighted the challenges in managing HVDRR and suggested a potential need for aggressive calcium supplementation therapy.
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