Back

Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis

Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis is a lethal inherited disorder in dogs characterized by severe kidney and liver abnormalities due to dysfunctional cilia.

Affected Genes: INPP5E

Inheritance: Autosomal Recessive

Variant(canFam6):
chr9:48319739: G>A

Breed: Norwich Terrier

General Information: Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis is a critical congenital condition in dogs, primarily caused by the malfunction of cilia, essential microscopic structures involved in organ development. This genetic defect leads to significant malformation of the kidneys, which become enlarged with multiple cysts, and extensive fibrosis in the liver. Affected dogs may also exhibit a range of other developmental defects, including poorly formed lungs, cleft palate, fluid accumulation in the chest or abdominal cavity, and diaphragmatic anomalies. Sadly, the severity of these complications generally results in the death of affected puppies shortly after birth, often within days.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis focuses on identifying mutations in the INPP5E gene, which plays a crucial role in cilia function. This disorder follows an autosomal recessive inheritance pattern, meaning that two copies of the mutated gene—one from each parent—are necessary for a dog to manifest the disease. Carrier dogs, possessing only one copy of the mutated gene, typically do not exhibit any symptoms but can pass the mutation to their offspring. When two carrier dogs are mated, each puppy has a 25% chance of inheriting the disorder, a 50% chance of being a carrier, and a 25% chance of being clear. To prevent the propagation of this severe condition, it is advised not to breed carrier dogs. Genetic testing is vital for informed breeding decisions to ensure the health of future generations, with the goal of eliminating this debilitating mutation from the breeding pool.

References:
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 13(9):e0204073.