Cystinuria Type II-B
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
            
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
            
            
        
        
        
            GTPs
        
    
    General
        
            Disease Name
        
    
    
            Cystinuria Type II-B
            
        
        
        
            OMIA
        
    
    
            1880
            
        
        
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Cystinuria is disorder that affects a dog's ability to filter cystine out of urine. Cystine is generally insoluble in the acidic conditions of canine urine, allowing it to crystallize and form caliculi, also known as stones. Not every dog that has the mutation responsible for Cystinuria will exhibit symptoms. Stones causing inflammation and blockage are often more common in males, due to their long, narrow urethra. Females exhibit symptoms much less frequently and may never show signs of disease. In many breeds, symptoms are first noted at around 4-5 years. However, Newfoundlands carry a more severe form that other breeds, with problems developing and noticed at 6-12 months. Newfoundlands are much more likely to experience recurring urethral blockages, and require surgical intervention. Please note that the tests, and type of inheritance, and mutations for Cystinuria vary by breed. It is important to choose a test appropriate for your breed/type.
            
        
        
        
            Details 2
        
    
    
            As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [?mol/g creatinine (normal ?500)] ?8,000 in homozygotes and ?3,000 in heterozygotes (from OMIA)
            
        
        
        
            Published
        
    
    
            Brons,A.K.,Henthorn,P.S.,Raj,K.,Fitzgerald,C.A.,Liu,J.,Sewell,A.C.,Giger,U.: SLC3A1andSLC7A9mutationsinautosomalrecessiveordominantcaninecystinuria:anewclassificationsystem.JVetInternMed27:1400-8,2013.Pubmedreference:24001348.DOI:10.1111/jvim.12176.
            
        
        
        
            Body/System/Process
        
    
    
            Renal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AD
            
        
         Donate
                Donate