Renal dysplasia with hepatic fibrosis is a rare autosomal recessive disorder described in Norwich Terriers. The disease is a part of a group of ciliopathies presenting as inherited hepatorenal fibrocystic disorders. It is characterized as diffuse cystic renal disease and hepatic fibrosis. The disease is a result of functional defects in the primary cilium, which is crucial for organogenesis, and can lead to polycystic kidneys, congenital developmental syndrome and progressive single organ dysfunction. The renal cysts are located in the straight portion of the proximal tubule and thin descending and ascending limbs of Henle's loop. The disease causes clinical symptoms later in the dog's life.

Inheritance: autosomal recessive - read more

Mutation: INPP5E 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.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.