There are two pieces of news. First, the UK pedigrees have been updated. There are 9 new ones, and 3 others awaiting paperwork. They retain their original code numbers so several slot into the existing collection rather than being added at the end. They are very helpful in supporting the recessive gene interpretation; thus while it has always seemed odd that JKD producers have commonly produced few affected pups, even to single cases from extensively-used males, we can now see that several known JKD producers/carriers have themselves produced numbers of carrier progeny. JKD is indeed everywhere. We also have several examples of litter mates that are producers.
A second bit of news is that Jo and I visited a kidney specialist (nephrologist) a few days ago, by invitation. It was a very long session that highlighted the difficulties that can be encountered whilst seeking to confirm diagnoses. Even post-mortem analyses that are regularly taken to define renal dysplasia (RD) can give misleading findings. The sectioning of the kidney may fail to detect the tell-tale immature cell types by missing the affected region, or the kidney may be too damaged by secondary changes to distinguish anything, and the diagnostic cell types may even be absent. It would seem that finding the immature cells confirms an RD diagnosis, but their absence does not exclude RD as the cause. There would appear to be similar difficulties with ultrasound, but the key message seems to be that every test adds something to a final positive diagnosis, so long as causes for the symptoms other than RD can be excluded. I was also warned not to have high hopes for the emerging SDMA test. It is indeed very sensitive, like USG, but again like the USG, is not specific - it is not diagnostic. Nevertheless it will be another screen for us to try and find sub-clinical JKD (affected dogs without symptoms).
A main problem is that we have what appears to be a series of renal failures with different names and uncertain distinguishing features, and the vets have not seen a way to establish whether they constitute different diseases or are different expressions of a single syndrome. But the pedigree data are indicating that renal diseases with different diagnostic criteria can occur within the same family. This makes it unlikely that they have different genetic bases. Rather, it seems that we have a single inherited renal disease that can be expressed in different ways. Our specialist has agrees that this is a valid conclusion.
From the start of the discussion it was clear that the nephrologist had no great ambition to work on JKD, but I was sure that if we could present an interesting problem that might yield publishable results, she might be intrigued enough to help us. And so it proved. The concept of fading puppies maybe having JKD did catch her attention, as also the possibility of pathology studies upon post-mortem material from older affected dogs. Here again we could focus the work by ensuring that all such material came from high risk JKD breeding.
In summation we have a possible veterinary research programme on fading pups and post-mortem material (at a range of ages). But a key requirement is that this would have substantial breeder support to provide the material. For this reason I have written to all UK breed clubs asking them to seek their member’s interest in participating in such a veterinary research project, which incidentally, would greatly help a gene scan, and I would hope that Breed Council will campaign for such support. I need hardly say that this would all have to be done in total confidence; pedigrees would be needed, but not for publication. The next Breed Council is in October, so will this be the beginning of a new chapter in JKD research?
A second bit of news is that Jo and I visited a kidney specialist (nephrologist) a few days ago, by invitation. It was a very long session that highlighted the difficulties that can be encountered whilst seeking to confirm diagnoses. Even post-mortem analyses that are regularly taken to define renal dysplasia (RD) can give misleading findings. The sectioning of the kidney may fail to detect the tell-tale immature cell types by missing the affected region, or the kidney may be too damaged by secondary changes to distinguish anything, and the diagnostic cell types may even be absent. It would seem that finding the immature cells confirms an RD diagnosis, but their absence does not exclude RD as the cause. There would appear to be similar difficulties with ultrasound, but the key message seems to be that every test adds something to a final positive diagnosis, so long as causes for the symptoms other than RD can be excluded. I was also warned not to have high hopes for the emerging SDMA test. It is indeed very sensitive, like USG, but again like the USG, is not specific - it is not diagnostic. Nevertheless it will be another screen for us to try and find sub-clinical JKD (affected dogs without symptoms).
A main problem is that we have what appears to be a series of renal failures with different names and uncertain distinguishing features, and the vets have not seen a way to establish whether they constitute different diseases or are different expressions of a single syndrome. But the pedigree data are indicating that renal diseases with different diagnostic criteria can occur within the same family. This makes it unlikely that they have different genetic bases. Rather, it seems that we have a single inherited renal disease that can be expressed in different ways. Our specialist has agrees that this is a valid conclusion.
From the start of the discussion it was clear that the nephrologist had no great ambition to work on JKD, but I was sure that if we could present an interesting problem that might yield publishable results, she might be intrigued enough to help us. And so it proved. The concept of fading puppies maybe having JKD did catch her attention, as also the possibility of pathology studies upon post-mortem material from older affected dogs. Here again we could focus the work by ensuring that all such material came from high risk JKD breeding.
In summation we have a possible veterinary research programme on fading pups and post-mortem material (at a range of ages). But a key requirement is that this would have substantial breeder support to provide the material. For this reason I have written to all UK breed clubs asking them to seek their member’s interest in participating in such a veterinary research project, which incidentally, would greatly help a gene scan, and I would hope that Breed Council will campaign for such support. I need hardly say that this would all have to be done in total confidence; pedigrees would be needed, but not for publication. The next Breed Council is in October, so will this be the beginning of a new chapter in JKD research?
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