Gallbladder Mucoceles
            Breed: Central Asia Shepherd Dog
        
        
        
        
    
        
            Breeds
        
    
    
                
                Relevance Rating: There is moderate evidence or research available  in this breed 
                
            
            
            
                
                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 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Gallbladder Mucoceles
            
        
        
        
            OMIA
        
    
    
            1524
            
        
        
        
            Gene Name
        
    
    
            ABCB4
            
        
        
        
            Mutation
        
    
    
            c.1583_1584G
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Gallbladder mucocoele (GBM) causes an abnormal accumulation of inspissated bile and/or mucous within the gallbladder. Older, small- to medium-breed dogs seem to be predisposed. Clinical signs are often non-specific and include vomiting, lethargy, anorexia, abdominal pain, jaundice and excessive drinking and urinating. If left untreat, or the gallbladder ruptures, it can cause death. As an autosomal dominant disease with incomplete penetrance, it is know that dogs inheriting one copy of the causal mutation are at increased risk for the disease. However, the disease development and onset varies between dogs, and not all dogs with one copy of the mutation will go on to develop the disease. It is possible environmental or other factors (genetic or not) impact the clinical expression of the disease.
            
        
        
        
            Details 2
        
    
    
            Gallbladder mucocoele (GBM) is an abnormal, intraluminal accumulation of inspissated bile and/or mucous within the gallbladder. Older, small- to medium-breed dogs seem to be predisposed, but no sex predilection has been identified. Clinical signs are often non-specific and include vomiting, lethargy, anorexia, abdominal pain, icterus and polyuria-polydipsia. Results of a complete blood count may be unremarkable, but serum biochemistry usually reveals increased liver enzymes. The ultrasonographic appearance is diagnostic and well described in the literature. Surgical intervention for the treatment of GBM remains the therapeutic gold standard, with short- and long-term survival for biliary surgery being 66%. (Smalle et al, 2015)
            
        
        
        
            Published
        
    
    
            Mealey, KL., Minch, JD., White, SN., Snekvik, KR., Mattoon, JS. : An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs. Comp Hepatol 9:6, 2010. Pubmed reference: 20598156. DOI: 10.1186/1476-5926-9-6.
            
        
        
        
            Published 2
        
    
    
            Smalle, T.M., Cahalane, A.K., Köster, L.S. : Gallbladder mucocoele: A review. J S Afr Vet Assoc 86:1318, 2015. Pubmed reference: 26824341.
            
        
        
        
            Body/System/Process
        
    
    
            Gastrointestinal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            ADIP
            
        
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