Vitamin D-Deficiency Rickets, type IA

Vitamin D-deficiency rickets, type IA is an autosomal recessive disorder of bone development in young, growing dogs because of deficiency of vitamin D. The resultant active form of vitamin D is a steroid hormone that plays a vital role in whole-body calcium homeostasis. The clinical signs of rickets arise from low serum calcium, failure of calcification of bones, leading to bone deformities, such as bowing of limbs, delayed dentition, lameness and dyspnea. Other symptoms of affected dogs include generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. If left untreated, this condition can be life-threatening.

Inheritance: autosomal recessive

Mutation: CYP27B1 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.