Present at birth
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Cystic Renal Dysplasia and Hepatic Fibrosis is a lethal ciliopathy that is characterized by diffuse cystic renal disease and hepatic fibrosis. Key features include a distended abdomen due to enlarged kidneys with cysts of 0.5-1.5 mm in diameter observed within the kidneys. Affected puppies show marked variable subcutaneous edema, hydrothorax and ascites. The lungs can be hypoplastic (underdeveloped). Other signs that may be present include cleft palate, diaphragmatic eventration, and diaphragmatic hernia. Fibrosis of the liver is observed.
Because of the severity of the clinical signs, affected puppies are usually euthanized at a young age on welfare grounds.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the Cystic renal dysplasia and hepatic fibrosis mutation can be safely bred with a clear dog with no copies of the Cystic renal dysplasia and hepatic fibrosis mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Cystic renal dysplasia and hepatic fibrosis mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Cystic renal dysplasia and hepatic fibrosis mutation could develop due to a different genetic or clinical cause.
All coordinates reference CanFam3.1
Dillard, K. J., Hytönen, M. K., Fischer, D., Tanhuanpää, K., Lehti, M. S., Vainio-Siukola, K., … Anttila, M. (2018). A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PLoS ONE, 13(9), 1–18. View the article