Official  Irish Terrier Association 

Surporting   The  Breed

The  following information has kindly been  provided by Ron Punter ( North of  England Irish Terrier Club.)
CYSTINURIA  IN IRISH TERRIER 
Cystinuria Sinuses  is a rare condition - we are appealing  for small blood samples ( with veterinaryreports and pedigrees ) from affected Irish Terriers To forward to Dr Pro Leeb's  department at University of Berne, Switzerland.
Research is underway to find a gene variant that is association with generic predisposition to the condition and develop  a genetic test that can be used by breeders to ensure that no more  Irish Terriers are bred that develop the condition.

The  Irish Terrier Association (ITA ) as funds available to pay  owners veterinary fees  for obtaining  the samples . If you think you can help anyway please contact the ITA secretary who will give details of exactly what we need.

Notes about the condition , compiled  by Ron Punter.
 Cystine  is a derivative of one of twenty acids that are the building blocks of life - cysteine.

Residual amino acids are usually filtered out and recycled  by the kidneys.

When cystine is not being filtered property  it can form into stones ( calculus , uroliths ) in the kidneys , ureters and bladder . Small stones  may past out  of the bladder and through the urinary track , this can be very painfully and ther  is a high chance of a blockage occurring.
"If   there is any change in behaviour or other signs that your dog's unitary tract  is blocked or is  having trouble urinating , call you  veterinarian immediately  or go to an emergency  clinic if it's after hours, as this is an emergency situation that cannot wait.

Cystinuria is relatively rare and many vets are not aware of it and mistake it for the much  common stones formed from struvites ( magnesium ammonium phosphate crystals ) caused by a urinary tract infection. 

 Typically the type of cystinuria that sometimes  affects Irish Terriers  is the late onset about four  years old onwards.
I A nitroprusside test can determine  the levels of amino acids in urine -Cystine ,Ornithine ! Lysine , and Arginine (COLA test ) - though it's only cystine that causes a problem. Fairly obviously, high COLA levels means the dog is at risk of Cystinuria.
Dietary changes and drug therapy have little effect in type3 but castration seems to be a complete cure ( assuming stones  have been removed ) and COLA levels return to normal.

Cystinuria  in humans is a generic recessive  trait and it  is often  misquoted as being the same in  dogs but in fact there are several different different defective genes which are now put into three divisions - in some breeds it is indeed recessive - designated type1  but in some others it's  dominant  - designated type2 . In Irish Terriers (  and Scottish Deerhounds)  the  condition only occurs in mail dogs that have not been neutered - designated type3, this is thought to be testosterone ( male hormone) dependent and genetically autosomal ( not on X  chromosome. In the way that sex linked conditions often are. ) It is not yet   Known if. The mode of inheritance is dominant or recessive .

References:
http://www.ncbi.nlm.nih.gov/pmfji/articles/ PMC3946761/SLC3A1  and SLC7A9  Mutations in Autosomal Recessive or Dominant Canine Cystinuria :  A New  Classification System A.-K. Browns,  P.S Henthorn , K. Raj , C.A. Fitzgerald , J. Liu , A.C. Sewell and U. Tiger.

https://sdcahealth.wordpress.com/health-issues/cystinuria/Scottish Deerhound Club of America - Cystinuria.


HYPERKERATOSIS REPORT 
As we all know , the Irish Terrier basically is a sound and healthy breed inspite of it's small population and rather genetic pool. The main health issue that we have been dealing with over recent years is Digital Hyperkeratosis (CF) now termed Hereditary  Footpad  Hyperkeratosis (HFH). " It's always been in  the breed ", the breeders used to say in the old days , strugging thier shoulders . But modern researchers being convinced that a disease of genetic origin must not be accepted as a sword of Damocles , as fate decided to find out the way of inheritance in order to keep the breed healthy and to make it even healthier again.  The CF- riddle has been solved quite recently by  Prof. Dr. Toss Leeb ( University of Bern Switzerland ). The marker gene has been  identified!
Designated 'HFH-A' the recessive marker gene is a variant of the FAM83G gene. The  condition is usually first seen by owners at 4-5 months of age and involves all footpads . With time horny protrusions appear on the rims of the footpads and the pad surface becomes hard and develops cracks. Affected animals avoid walking on irregular surfaces and may go lame. The nails of affected dogs are very hard and seem to grow faster. Visual diagnosis is not always simple as the intensity of clinical symptoms can vary between animals  or even between pads on he same animal , therefore the DNA  test is the conclusive diagnosis. Inspections  should be careful not to mistake for HFH accidental cuts or splits or abrasions , such as those from exercise on hard surfaces.
The  result of the research were published in spring 2014 and the genetic test became available after evaluating it's reliability and technical feasibility. This is a wonderful contribution for all health concerned breeders as the test now allows us to find out about them genetic disposition of our breeding stock and especially about potential carriers , those dogs which are so risky in breeding as they do not show any sign of the disease but, I'd bred to a  carrier partner , may produce affected  offspring.  Swiss researcher , Prof. Dr . Tosso Leeb, having managed to find the gene marker in the  Kromfohrlander breed, directly went on with his  research on the Irish Terrier.  Given samples of dogs from many years ago this with the base of the study together with somebody asked for from dogs or Swedish B reader and also is given samples a job from Dr Jeremy at simonandedwina@virginmedia.com .
 In 2008 the French group ( Antagene and Rennes University)  started on a different background:  after having identified the gene marker for a similar condition in the Dogue de Bordeaux , Dr. Anne Thomas was interested in doing the same research for the Irish Terrier breed and attend ed  a show in Lyon with the aim of collecting samples  from those Irish Terriers showen at that particular show . There  she met the French breeder  Frederique Andersson  who immediately agreed collecting  samples from all over France .Due to personal relations this idea spread to Germany where  Andrea  Gasch and Helga Richter - Lonnecke  were  asked  by  Antagene to collect samples and then spread to Britain where  Susan  Seabridge spent  a tremendous amount of time and energy in collecting samples and biopsies  . In Lactea it was Tatiana Necajeva who  as well as in her country helped find in Russia several affected  dogs  based on well-known Western European lines.  The French   research therefore focused  exclusively on  contemporary dogs.  Early November 2013 , Anne Thomas presented the  Antagene work at the German breeders'  annual  reunion informing them that they had not yet reached a conclusion . At this  time neither  Leeb  or Thomas knew that both scientist groups were  working  on the same subject  which Professor. Dr.  Leeb was able to report the successful conclusion  and, being  advised  of their interest, invited  the  Antagen  group to collaborate  with him or the final  evaluation.
Antageneh  were  able to carry this work forward  and offe testing to identify those Irish Terriers that are designated : ' Affected ', ' Carries ', or 'Clear' of HFH. their services can be found on http://www.antagene.com There are no restrictions on testing based on Prof Leeb's research .   The UK Laboratory , Animal DNA  Diagnostics offers  testing from simple at home cheek swabs ( including puppies) and have collected samples from UK dogs of known status in order to validate their  testing.  Details available on https://www.animaldadiagnostics.co.uk.
Now that the generic state of dogs can identify correctly  , all dogs can be retained  for breeding if they are desirable breeding stock. Mating combinations can be decided which avoid the risk of producing Foot  Hyperkeratosis affected pups. The  different breeding combinations and their outcomes are listed below . The combinations in red risk  affected pups and should be avoided , but  there are recommended combinations which include both carriers and  indeed  affected  dogs ( in fact the affected - clear combination has the advantages that the resulting pups  do not need to be genetically tested  as they will be carriers).  Breeding  from an affected dog could therefore be contempl if he was a excep dog in other ways.  Obviously the LONG TERM aim is to gradually remove the carriers from the breeding group , but this does diminish and the breeding group , so in an ideal world would be undertaken very gradually. Unfortunately , often  breeders are too eager to discard carriers from breeding! 

The following table makes it easy don't stand has been provided by Dr June Swinburne, Animal DNA Diagnostics.
Affective  X  Affected  = 100 %  Affected
Affective X Carrier = 50% Affected / 50 % Carrier
Affected X Clear = 100% Carrier
Carrier X  Carrier =  25%  Affective , 25 % Clear , 50 % Carrier
Carrier X  Clear =50% Carrier , 50% Clear
CleavX Clear  =   100%  Clear