Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis
Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis belongs to a group of diseases called ciliopathies. In ciliopathies, the hair-like structures of varying organs are either missing or misshapen leading to organ dysfunction. Normal ciliary function is also crucial for fetal organ development. This variant leads to kidneys that contain many small fluid-filled cysts and liver fibrosis. Having this variant can cause death within a few days of birth.
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Signs and symptoms
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.Uncover health risks with Embark
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Diagnosis
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.
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Treatment
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.
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What to do if your dog is at risk
Actions
- 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.
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Genetic Information
This variant was first described in the Norwich Terrier.
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 names:
INPP5E Intron 9 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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