The Renal dysplasia Project

The project aims to identify the gene and the genetic mutation that causes the kidney disease Renal dysplasia (RD). The concept ‘Renal dysplasia’ has recently replaced ‘Progressive Nephropathy’ (PNP) as a more accurate term for the disease.

Since the inheritance of RD is thought to be autosomal recessive, it is likely that DNA from approximately ten individuals (from one breed) with the diagnosis RD and ten healthy controls are enough for the initial genetic analysis in the search for the mutation.

Renal dysplasia and Hereditary nehpropathy
Renal dysplasia and Hereditary nephropathy (HN) are two different diseases. Hereditary nephropathy, also known as Familial nephropathy (FN), is a hereditary renal disease, caused by the lack of certain types of collagen in the basal membrane of the glomeruli. This destroys the filter of the kidney, which causes a leakage of protein. The cause of the disease is now known and the gene has been identified, which makes it possible to test whether the dogs are carriers for the mutated gene or not.

Renal Dysplasia (renal = kidney, dysplasia = unnatural cell growth) is defined as an unnatural development of the kidney tissue. The kidney tissue (glomeruli and tubuli) might be underdeveloped (foetal) and/or miss-developed, which causes inflammation and formation of fibrous tissue. In most cases, the dog will become sick and die from renal failure between the age of 4 months and 2 years of age.

What happens now?
At this point we would like to study RD in English cocker spaniel and Boxer, breeds that seem to be predisposed by the disease. At this stage we do not know if the disease is caused by the same genetic mutation in both breeds.

We have already started the work with the Boxers by using already collected renal tissues (paraffin embedded) and by starting the collection of blood samples (DNA) from affected dogs and their families. But we still need a larger number of cases before the initial genetic analysis can be completed.

At the same time, we are trying to collect blood samples from English cocker spaniels affected with RD. We hope that dog owners as well as veterinarians will become aware of the project and organise the collection of blood samples from dogs that might suffer from RD. In addition, it is important that kidney tissues always are sent to pathological laboratory for analysis and correct diagnosis.

If you have a dog with kidney failure that could possibly be RD: ask the veterinarian for a blood sample (4 ml EDTA-tube). Please fill in the form together with the vet and send it all to:

Katarina Stenshamn
Husdjursgenetik, SLU
Box 7023
S-75007 Uppsala
SWEDEN

Please contact me via email; Katarina.Stenshamn@kv.slu.se or phone +46 18 67 14 82,
if You have any questions!!

Many thanks!!

/Katarina Stenshamn