What is Fanconi Syndrome?
Fanconi Syndrome is the failure of the renal tubules of the kidney to do their job. The renal tubules re-absorb nutrients into the dogs system. These nutrients including protein, glucose amino acids and water-soluble vitamins are essential to maintain normal function. Without proper function these nutrients are lost and left uncontrolled the acid/base blood balance will not be correct and will begin to affect the function of the internal organs. The dogs will loose condition and will eventually succumb to the condition.
What are the signs of Fanconi Syndrome?
There are a number of signs for Fanconi Syndrome; excessive water drinking, frequent urination and a general loss of condition are all signs of this condition. Prior to the DNA (linkage marker) test being made available most breeders and owners tested their dog's urine once a month. This simple test using diabetic (glucose) strips will indicate if the dog is spilling sugar into the urine. If the strip test proved to be positive then further professional examination of blood glucose spillage should be undertaken; unlike diabetes sugar in the blood is low or normal with Fanconi Syndrome. Some vets have misdiagnosed Fanconi Syndrome as diabetes and offered diabetes treatment, unfortunately, generally with disastrous results.
What do I do if I suspect my dog has Fanconi Syndrome?
Firstly, if your dog has been diagnosed with diabetes make sure this diagnosis is correct. Has your vet heard of Fanconi Syndrome? Does he know the signs and has he heard of the control protocol? If the answer is no then seek a second opinion from a vet that has experience and/or more knowledge. Ensure that the vet has a copy of the Basenji Fanconi Syndrome Protocol which you can down load from this website. Contact your breeder.There is also a support group for owners with affected dogs write to the following email address fanconi firstname.lastname@example.org to join the list.
If at least one of the parent is not normal for the disease there is a risk of having affected puppies. For each pup born from a carrier to carrier pairing, there is a 25% chance of having the disease. When and affected is bred to a carrier for each pup born there is a 50% chance of having the disease. When and affected is mated to an affected 100% off the pups born will have the disease that is guaranteed. Why take the risk of purchasing a puppy from untested parents!
Tambuzi Health Management Program – Fanconi Syndrome
- Mandatory: all breeding stock is DNA tested for Fanconi Syndrome before breeding or is normal by parentage history.
- Acceptable Combinations: normal x normal, normal x carrier. These combinations will not result in affected offspring. All other combinations are not acceptable in my breeding program.
- Carriers: May only be bred to a normal. To maintain genetic diversity quality carriers will not be eliminated from my breeding program. Carriers ‘carry’ one copy of the mutant gene which may be transferred to offspring. Offspring may continue to carry one copy of the mutant gene but they will not become affected with the disease. Progeny from carrier x normal matings will continue to be tested before breeding to establish their status.
Note to potential puppy buyers in relation to Fanconi Syndrome
Before purchasing a puppy you need to establish the Fanconi Syndrome status of the pups parents. I recommend that you ensure that at least one parent has been DNA profiled for Fanconi Syndrome with a ‘normal result’. Ensure that the Fanconi Syndrome test is direst DNA test (not the linkage maker test that offers ‘probable’ results). Ensuring one puppy is normal for Fanconi Syndrome will ensure the puppies will not be afflicted by the disease. Australian dogs that have been tested for Fanconi Syndrome can be seen on at Australian Fanconi Syndrome Results. It must be noted that this report does not differentiate between probable and direct results. Specific dogs with full results can be viewed at the OFA website. Use the ‘advanced search’ button and type in the dogs full name in the search engine. Any results listed as ‘Probable Normal/Clear’ or ‘Probabaly Carrier’ etc. and not conclusive results.
With a concerted effort by breeders worldwide Fanconi Syndrome will become a disease of the past. Such testing with Pyruvate Kinase Deficiency (HA) has seen PKD all but eliminated from the Basenji.
When purchasing a puppy what do I actually need to know?
Purchase from a breeder who can provide evidence of at least one parent with a normal result. A certificate from the OFA should be sighted dates post mid 2011.
Personally, I would not purchase from a breeder who is unable to provide written evidence of testing. Or if at least one parent is not normal for this disease.
I would be cautious about any results prefixed with the word 'Probably' e.g. Probabaly Normal. These 'linkage marker' tests (pre mid-2011) were not 100% reliable.
Disease Gene Mutation Information – Fanconi Syndrome
Mutation: 321bp deletion
Research Link: http://www.ashg.org/2012meeting/abstracts/fulltext…
- Animal Molecular Genetics Lab – University of Missouri order tests kits at via OFA website.
- Paw Prints Genetics (USA)