Diffuse cystic renal dysplasia and hepatic fibrosis

Disease overview

Diffuse cystic renal dysplasia and hepatic fibrosis is a fatal kidney and liver condition inherited by Norwich Terriers.

Gene name

INPP5E

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs typically die when they are young puppies.

How is it diagnosed

A veterinarian will take a look at history as well as clinical signs to help diagnose this condition. A post-mortem necropsy can be performed to visualize changes that occurred in the kidneys and liver. If performed early enough, genetic testing can determine if there is a mutation present.

Breeds at higher risk

Norwich Terrier

Citations

Dillard KJ, Hytönen MK, Fischer D, Tanhuanpää K, Lehti MS, Vainio-Siukola K, Sironen A, Anttila M. A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PLoS One. 2018 Sep 20;13(9):e0204073. doi: 10.1371/journal.pone.0204073. PMID: 30235266; PMCID: PMC6147468.