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Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis

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Test Overview:

Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis affects dogs and is an inherited developmental disease. Dogs who are affected with this disease are born with abnormalities or will have complete absence of hair-like structures (cilia) which plays an important role in organ development and other developmental processes. The lack of functional cilia can result in the severe malformation of the kidneys and scarring (fibrosis) of liver during foetal development. The kindey's will usually be enlarged as a result of the formation of large cysts within the tissue. Additionally, affected dogs can usually be born with poorly developed lungs and may also have a cleft palate, malformation of the diaphragm, or free fluid in their chest or abdominal cavity. Affected puppies will usually die within a few days of their birth.

Category:

Ontogeny / ontogenesis (or simply developmental) - Developmental (Diseases associated with in-utero development)

Gene:

INPP5E

Variant Detected:

chr9:49069064 (canFam3): G/A

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

ultrasonography or microscopic tissue examination

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/30235266/ Dillard KJ, Hytonen MK, Fischer D, Tanhuanpaa 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. [PubMed: 30235266]

Associated Breed(s):

Mixed Breed, Norwich Terrier,

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