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Cystinuria in Mastiffs

New website that summarizes canine cystinuria information: http://www.caninecystinuria.com/

NEW: Update on Cystinuria 8/28/03 Drs. Paula Henthorn and Urs Giger

Cystinuria FAQ Frequently Asked Questions

Statistics

Mastiffs tested for Cystinuria at UPenn via Urine Nitroprusside testing

Current cumulative statistics from 1999 through March 2007:

• Total male dogs tested: 585
• Total female dogs tested: 542
• Positive male dogs: 58 (10%)
• Positive female dogs: 1 (.18%)

Discussion

Cystinuria is a serious, potentially life threatening problem that affects the bladder, kidneys and urinary tract system and it has been found in mastiffs. Cystine stones can form in the urinary system of both males and females. This is particularly serious for males because of their anatomy. Treating a dog with Cystinuria for other types of stones can be deadly! Supplementing with acidifiers such as vitamin C can cause stones to form in Cystinuric mastiffs - please test BEFORE supplementing. Cystinuria is known to be an autosomal recessive hereditary disease in people and in Newfoundlands. There is currently research being done into the mode of inheritence in mastiffs. There is a simple urine test for Cystinuria which can be performed on pups as well as adults, please test your mastiffs, lets work on this problem NOW. The gene responsible for Cystinuria in Newfoundlands has been found and carriers can be detected as well as affected dogs. The gene for Cystinuria in Mastiffs is not the same and we need your help with data collection and fund raising in order to find it.

(1/02) Cystinuria Committee Update - Sex-Linked?

We are happy to report that the Mastiff community as a whole is becoming much more familiar with cystinuria, testing methods and why testing is important. Many responsible breeders are testing litters before placing puppies, and requesting or requiring that the pups be re-tested between 18 and 24 months as the research team at the University of Pennsylvania recommends. As most of you know, the test is a simple urine collection which does not require a vet visit but can easily be collected by the owner or breeder 2-4 hours after the dog has eaten. The sample is chilled or frozen and shipped overnight to the Duebler lab at Penn along with a form which is available on the mastiff.org site. Pups can be tested for a $10 charge per pup when submitted as a litter together. Puppies tested before maturity should be re-tested between 18 and 24 months of age for the best assurance of freedom from the disease. The urinary system of young puppies is of course immature and therefore it's best for all concerned to have both an early test and one at maturity for the best picture of urinary health.

In the way of news, the Penn database is over 200 dogs strong at present. Aided by the outstanding pedigree program designed and donated by Deb Jones, Dr. Paula Henthorn is able to research pedigrees of affecteds to try to determine the mode of inheritance of this disease. Interestingly, the ratio of affected males to females is quite uneven. Although the ratio of samples submitted is about fifty-fifty, the vast majority of affected Mastiffs are male. Dr. Henthorn would like to stress that we are still not in a position to label cystinuria with any given mode of inheritance in particular, so please keep that firmly in mind. This might be a good time however, to introduce the concept of sex linkage to those of you who have not heard of it yet, as this is one of several possibilities. It isn't as straightforward as autosomal recessive or dominant genetics.

To understand how a gene can be passed along in this way, one first needs to remember basic biology. Female mammals have two X chromosomes and males have one X and one Y chromosome. When a trait is sex-linked, it is associated with the X chromosome. That means that in the case of a sex-linked recessive gene, there would be a pattern of affecteds similar to what we are seeing in the Mastiff cystinuria study; the vast majority of affected dogs would be male. The reason for this is that as you know, it takes two copies of a recessive gene for the trait to show in the dog. Carriers would not (necessarily) appear to be affected. Since the Y chromosome, which differentiates males from females does not compete with the X chromosome, it would not require two copies of the mutant gene for the disease to be expressed. In other words, there is no second, normal copy of the gene to hide the mutant one. In the case of females, there is in fact a second copy of the same gene which would also have to be in the mutant form in order for the disease to be expressed. In this way, in traits which are sex-linked recessive, male mammals are never carriers of a sex-linked disease or trait. They are either affected or clear. Females, however, can be affected, clear or carrier.

Again, please keep in mind that this is only one of several possibilities for the genetic transmission of cystinuria in Mastiffs. More study is needed to finally determine what we are dealing with in this potentially fatal disease. Moreover, we are very much in need of more samples for the study. The more samples we have, the faster this team at Penn will get their work done and we will be on our way to having the tools to eliminate another genetic problem from our beloved breed. We are closer now than we have ever been before in reaching some important conclusions and being able to take the same steps to eliminate this disease from our breed in the same way as we are now making great strides to eliminate PRA. Thank you to all who continue to support the efforts of the Health Committee and Subcommittees.

Stories About Mastiffs With Cystinuria

Here are the perspectives of three people directly affected by this condition in their own Mastiffs. The first is Deb Jones, Chair of the Health Committee and MCOA Board member. Her beloved Hooch did develop potentially life-threatening stone blockage after almost nine years of living asymptomatically. Next is Lynda Piercy, MCOA member and breeder, who was on the ball and able to help Leo's family when he developed a blockage. Lastly is Sue Stebbins, owner of two Mastiffs of my breeding. It is the one completely unrelated to Baloo which is testing positive. Both Lynda and Sue have joined the cystinuria subcommittee and all three of these devoted Mastiff people have chosen to go public to help YOU.

Here is what they have to say:

Leo by Lynda Piercy Lynda Piercy has the perspective of breeder/stud owner being contacted by a concerned puppy owner. Her level of involvement is admirable.

Knowledge Is Power by Sue Stebbins This is from Sue Stebbins. Sue teaches first grade in her home town while attending school to finish her graduate degree and caring for her family.

Hooch by Deb Jones Deb Jones, after the loss of her beloved Hooch. I'm sure you can relate to one or more of these people. Please run this simple test on the Mastiffs you have at home in order to rule out the possibility of a sudden blockage in one of your dogs, and to increase the database at UPenn. No vet appointment or high fees involved. The test costs less than one bag of dog food or one show entry and can be done by yourself. Together, we will beat this thing. Please direct any general questions you might have about the research being done to any of the cystinuria subcommittee members rather than calling UPenn directly. The time the scientists spend answering basic questions takes away from their research and slows progress for all of us.

I'm sure you can relate to one or more of these people.

Please run this simple test on the Mastiffs you have at home in order to rule out the possibility of a sudden blockage in one of your dogs, and to increase the database at UPenn. No vet appointment or high fees involved. The test costs less than one bag of dog food or one show entry and can be done by yourself.

Together, we will beat this thing.

Please direct any general questions you might have about the research being done to any of the cystinuria subcommittee members rather than calling UPenn directly. The time the scientists spend answering basic questions takes away from their research and slows progress for all of us.

To have your mastiff tested for Cystinuria:

Print out this linked form to submit liquid urine in a tube (an interactive .pdf). Important: feed your Mastiff 2 to 4 hours prior to collection of urine. Collect at least 3 to 5 milliliter (3-5 cc) urine in a very clean container, for instance, a sterile glass or plastic tube with appropriate lids from your local veterinarian. You may wish to store the liquid urine samples in the freezer until you have collected all samples for shipment.

Ship by overnight mail in appropriate mailer, with an ice pack. Include a completed submission form (an interactive .pdf) and check payable to Trustees, Univ. of Penn. for $40 per dog.  Please call UPenn directly (215) 898-3375 for a Kennel Rate Discount when multiple dogs will be collected and submitted together and the results will be reported to one individual.

Mail to:

University of Pennsylvania
School of Veterinary Medicine
The Josephine Deubler Genetic Disease Testing Lab
3850 Spruce Street, Room 4006
Philadelphia, PA 19104-6010
PH: (215) 898-3375 Fax: (215) 573-2162
Website
Email

The results will be sent to you within 10 days of reciept of the samples. ALL identifying information is kept STRICTLY CONFIDENTIAL and is seen only by members of the research team at University of Pennsylvania. If your dog has tested positive for the nitroprusside urine screening test, and you need to submit blood samples, please use the consent form  

Please read the following pages for more information:

• CYSTINURIA Something To Consider By Heidi MacKenzie
• Cystine Stones in people and some useful general information
• Letter from Dr. Giger at the University of Pennsylvannia
• Medical Genetics Section of the School of Veterinary Medicine University of Pennsylvania
• Cystinuria in Newfoundland Dogs By Sharon Gwaltney DMV PhD
• Cystinuria in Newfoundland Dogs By Sharon Gwaltney DMV PhD
• The Newfoundland Dog Health Resource Center
• Scrotal Urethrostomy
• Emergency Procedures: Dalmatian Cannot Pass Urine