Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis

Affected dogs may show abdominal pain and distention as the cysts grow. Affected dogs may also develop abnormal fluid in parts of the body, underdeveloped lungs, a cleft palate, and diaphragmatic abnormalities.

Affected puppies may die shortly after birth.

Diagnosis is made based on clinical history, genetic testing, and possibly ultrasonography (although the cysts may be too small to image clearly). Microscopic tissue examination may be needed for a definitive diagnosis.

There is no cure for Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis; all currently available treatments are symptomatic or supportive in nature. Frank discussions about the quality of life are warranted. Most affected puppies die shortly after birth.

Talk to your vet about your dog’s diffuse cystic renal dysplasia and hepatic fibrosis result so you can discuss what signs to monitor for and plan supportive care.

This condition affects both the kidneys and liver, and signs such as decreased appetite, increased drinking or urination, vomiting, or weight loss may develop over time.

Provide a calm environment, encourage regular but gentle activity, and make sure fresh water is always available.

Focus on keeping your dog comfortable with soft bedding, consistent routines, and attentive care to maintain quality of life.

This variant was first described in the Norwich Terrier.

Penetrance: This variant is inherited in an autosomal recessive manner, meaning that a dog requires two copies of the variant to show signs of Renal Dysplasia and Hepatic Fibrosis.

Gene

INPP5E Intron 9

Inheritance type

recessive

Clinical category

Urinary

Citations

1. Dillard et al 2018

• Norwich Terrier