Renal Dysplasia
Renal dysplasia is an inherited disease that is caused by an abnormal (incomplete) development of the kidneys before the puppy is born. In some cases, the incomplete development may also affect other parts of the urinary system such that one kidney may be missing (renal aplasia), much smaller than normal (renal hypoplasia), or the connections (ureters) are incorrectly formed between the kidneys and the bladder (ectopic ureters). Some affected Cairn Terriers may also be missing a kidney.
Clinical signs of disease can be seen as young as 8 weeks of age or may not be apparent until later in life at several years of age. Typical clinical signs consist of increased urination and drinking, vomiting, depression, loss of appetite, and weight loss. Once affected dogs begin to show clinical signs, researchers estimate that less than 25% of the kidney function is left. There is no curative treatment other than performing a kidney transplant, which is not always successful in dogs and is extremely costly (upwards of $25,000). The severity of this disease makes it all the more important that we find the underlying genetic cause to eliminate this disease from our breeding programs.
Testing Your Cairn for Renal Dysplasia
Ultrasounds are used to determine the health of a Cairn’s kidneys. The Foundation regularly provides kidney ultrasounds performed by a board-certified specialist at the National Specialty and selected other shows at a substantially subsidized price.
A list of other board-certified specialists performing ultrasounds for Renal Dysplasia is available here >
Research on Renal Dysplasia
Dr. Margret Casal, Professor of Medical Genetics at the University of Pennsylvania School of Veterinary Medicine and her team are currently conducting research into this disease. The aim of this research project has been to investigate the heritability of renal dysplasia in the Cairn terrier breed. Dr. Casal has also sought to understand the degree to which genetics influence the severity of disease - whether it is mild, moderate, or severe – and the degree of relatedness between renal dysplasia and aplasia.
The Foundation has been delighted to support this research with funding and to facilitate access to the data the team requires. Reports on progress are available here:
Renal Dysplasia Research Progress Report - 2022 >
Renal Dysplasia Research Progress Report - 2021 >
Renal Dysplasia Research Progress Report - 2020 >
Renal Dysplasia Research Progress Report - 2018 >
To support this research on Renal Dysplasia, Dr. Casal and her team need more DNA samples, that is blood from dogs with ultrasound scan results – particularly if the scan results are abnormal.
How Your Dog May Help this Research
If your dog’s scan performed as part of a Foundation-sponsored Health Clinic is abnormal, you’ll be asked if you would be willing to donate blood and a pedigree to Dr. Casal’s work.
If you have your dog’s ultrasound performed by another vet, pictures and reports should be sent to her through email. Any veterinarian who helps with the research will be acknowledged.