Familial Fatal Acute Respiratory Distress Syndrome (ARDS)
        
            Breeds
        
    
    
                
                Relevance Rating: There is moderate evidence or research available  in this breed 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Familial Fatal Acute Respiratory Distress Syndrome (ARDS)
            
        
        
        
            OMIA
        
    
    
            101
            
        
        
        
            Gene Name
        
    
    
            ANLN
            
        
        
        
            Mutation
        
    
    
            c.31C>T
            
        
        
        
            Mutation 2
        
    
    
            p.R11*
            
        
        
        
            Mutation 3
        
    
    
            g.47812143
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Acute respiratory distress syndrome (ARDS) is an inherited respiratory disorder that affects the Dalmatian dog breed. Generally, ARDS is referred to as acute, life-threatening respiratory failure with high mortality rate. Among dogs, a lethal outcome of ARDS reaches almost 100%. Except for genetics, other factors that contribute to the development of ARDS have been established. Primary factors cause direct injury to the lung; such as aspiration pneumonia, pulmonary contusions, or inhalation of harmful gases. Secondary factors cause the injury of lungs through activation of systemic inflammation mechanisms. Such factors are sepsis, pancreatitis, parvovirus enteritis, nonthoracic trauma, thermal burns, or paraquat ingestion. Characteristics and Symptoms General symptoms of ARDS in dogs are difficult breathing, coughing, nasal discharge, fever, blue discoloration of the skin (cyanosis), or other signs related to underlying disease. Pulmonary manifestations include multiple foci of marked atypical hyperplasia, patchy ongoing fibrosis with myofibroblastic metaplasia, smooth muscle hyperplasia and sometimes hyperplasia of type II pneumocytes, as well as acute alveolar edema. Diagnosis is based on presenting clinical signs, thoracic radiographs, and exclusion of other causes of respiratory disease. Radiographs may show pericardial effusion, thoracic effusion, air bronchograms and free air within the lung cavity. A differential diagnosis would include pulmonary interstitial fibrosis, chronic bronchitis, kennel cough, tracheal collapse, bronchomalacia and bronchial carcinoma.
            
        
        
        
            Published
        
    
    
            Holopainen S, HytoÈnen MK, SyrjaÈ P,Arumilli M, JaÈrvinen A-K, RajamaÈki M, et al. (2017): ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. PLoS Genet 13(2): e1006625.
            
        
        
        
            Body/System/Process
        
    
    
            Respiratory
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
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