Einstein's mom identified to be carrier of renal dysplasia

[Madhura Khedkar]

Hi All - I typically post in the Seizures forum because Einstein suffers from idiopathic epilepsy which our neurologist believes is likely to be inherited. His epilepsy is not well controlled despite being on three AEDs (Potassium Bromide, Phenobarbital and Levitacetrum). We were informed this week by the breeder that his mother is a carrier of renal dysplasia. Einstein's brother from another litter was diagnosed with renal dysplasia at 4 months and is on a low-protein diet and medications currently. We are meeting with our neurologist who has recommended urine analysis and SDMA test (and possibly ultrasound) to understand more on how Einstein's kidney's are. We do blood tests every 3 months for Einstein since he is on KBr and his createnin levels have been within range. Has anyone else's dog / doodle ever had renal dysplasia? Have you noticed seizures resulting from renal dysplasia? The two may not be correlated but I did read a few blogs (I know I should not have looked online but I really couldn't wait) where the seizures were a result of renal dysplasia. I would love to hear some comments, thoughts if anyone else has gone through this. Thank you in advance! 

[Bonnie and Kona]

I have no experience but want to express my sorrow for you as you care for your sweet Einstein. I am sure it is very hard knowing he has both the seizures and now a possibility of renal dysphasia. Sending you and Einstein doodlekisses.

[Madhura Khedkar]

Thank you Bonnie and Kona!

[AndySharon BoomerShaynaMariner]

This is the first time I heard of any correlation between renal dysplasia.  Although seizures can be caused by many underlying issues so I am not surprised.  I would be surprised if there is a kidney problem as Einstein obviously under close veterinary care and no symptoms have appeared.

Please cross post in the Seizure Group.

[Madhura Khedkar]

It seems very unlikely as well but hopefully these tests will help clear up the air. Thanks so much! 

[Nancy, Ned, Clancy, and Charlie]

I don't have any information to contribute, but I wanted to send you my concern and support.

[Madhura Khedkar]

Thank you!!

[Nancy & Echo]

I'm so sorry you are going through this.  I'm not an expert at all, but I couldn't find any papers in Pubmed that included both canine renal dysplasia and seizures.  It sounds like its pretty uncommon, or hasn't been studied.  In people, we usually don't know what causes seizures.

But one cause of seizures can be electrolyte imbalances, and electrolyte imbalances can happen due to renal dysplasia.  I'm sure this is a very simplistic association, and the real story is very complex.

In this paper of HUMANS, one particular mutation seemed to be associated with a mutation in a certain place. 

renal dysplasia ... been reported only with the most proximal breakpoint at band 2q37.   A subset of a certain group also had seizures. http://www.ncbi.nlm.nih.gov/pubmed/17910077

This Very Old abstract (1978) says  Children with congenital renal hypoplasia or dysplasia often presented with seizures due to hypertensive encephalopathy without obvious symptoms or signs of pre-existing renal disease. Among patients with familial nephropathy many of those with cystinosis underwent successful renal transplantation early in life.  http://www.ncbi.nlm.nih.gov/pubmed/647561

If you know Einstein's mom's mutation, would it be helpful to know if Einstein has the same mutation too?

I'm sure all the above has all been considered by the neurologist.

Wishing Einstein and you all the best.

[Madhura Khedkar]

Thank you so much Nancy! This is very useful. We submitted his urine and bloodwork for analysis and will hopefully know more in less than a week. I will read up on the links you posted. I will definitely inquire about his mom's mutation (I might get him tested too just to be sure). His neurologist thinks his epilepsy is likely to be genetic but we have not gone down the path of genetic testing for that either.