Disease overview

Vitamin D-deficiency rickets type II is a hereditary condition that is caused by a mutation in the Vitamin D Receptor (VDR) gene that leads to insufficient absorption of calcium by the small intestine.

Gene name

VDR

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will first show signs in puppyhood and include lameness and skeletal abnormalities, most noticeably an outward bowing of the forelimbs. Due to insufficient amounts of calcium deposition in the bone matrix, dogs are prone to spontaneous fractures.

How is it diagnosed

A veterinarian will take a look at history as well as clinical signs to help diagnose this condition. Laboratory testing and imaging such as radiographs will help diagnose this condition. Genetic testing can determine if there is a mutation present.

Breeds at higher risk

Citations

LeVine DN, Zhou Y, Ghiloni RJ, Fields EL, Birkenheuer AJ, Gookin JL, Roberston ID, Malloy PJ, Feldman D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene. J Vet Intern Med. 2009 Nov-Dec;23(6):1278-83. doi: 10.1111/j.1939-1676.2009.0405.x. Erratum in: J Vet Intern Med. 2010 Jan-Feb;24(1):259. PMID: 19909429.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.