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Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis

Kidney and Bladder

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.

  • 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.

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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.

  • 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.

  • What to do if your dog is at risk

    Actions

    • Keeping your affected dog comfortable at home is the best therapy you can provide.
    • Current therapies for other forms of kidney disease will likely not change the outcome.

  • 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:

    Dillard et al 2018

  • Breeds affected

    This health condition affects the following breeds

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