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Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds
General
Disease Name
Gallbladder Mucoceles
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.
