Junior to adult onset
For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.
At risk dogs are likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Renal cystadenocarcinoma and nodular dermatofibrosis is characterized by bilateral, multifocal tumors in the kidneys. Kidney cysts start to develop in puppyhood, but observable signs of kidney disease are usually present in dogs 7-8 years of age when tumors are larger in size and number. Typical signs of the kidney disorder are polydipsia, polyuria, loss of appetite, weight loss, ascites (accumulation of fluid in the peritoneal cavity), and vomiting. Most females develop uterine leiomyomas (benign smooth muscle tumors). Numerous firm nodules in the skin, consisting of dense collagen fibers are also present in RCND. Skin nodules are usually observable at the age of five years and they can be seen especially in the area of head and limbs. Skin nodules grow slowly over a long period of time and can cause skin lesions at an older age. Skin nodules are usually not associated with discomfort but skin lesions can be painful. Many affected dogs can live many years with subclinical disease. In some cases, the clinical signs are mild and appear at an older age.
Medical management of clinical signs associated with kidney failure is possible for a period of time. Surgical excision of the uterus may be attempted to reduce the tumor burden. Management of skin lesions may help reduce discomfort though excision of nodules is not usually necessary.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal dominant meaning that one copy of the mutation is needed for disease signs to occur. Use of dogs with one or two copies of the disease mutation is not recommended, as there is a risk that the resulting litter will contain affected puppies. For example if a dog with one copy of the RCND mutation is bred with a clear dog with no copies of the RCND mutation, about half of the puppies will have one copy and half will have no copies of the RCND mutation. Please note: It is possible that disease signs similar to the ones caused by the RCND mutation could develop due to a different genetic or clinical cause.
| Gene | FLCN |
|---|---|
| Variant | A>G |
| Chromosome | 5 |
| Coordinate | 42,186,445 |
All coordinates reference CanFam3.1
Lingaas, F., Comstock, K. E., Kirkness, E. F., Sørensen, A., Aarskaug, T., Hitte, C., … Ostrander, E. A. (2003). A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Human Molecular Genetics, 12(23), 3043–3053. View the article
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