Acute respiratory distress syndrome (ARDS)

General description

The ANLN gene plays an important role in the cell division and development of intercellular junctions of the epithelial cells. The clinical signs of ARDS in Dalmatians are progressive tachypnea, dyspnea, respiratory distress, pulmonary lesions and some affected puppies also showed renal aplasia and hydrocephalus. The typical age of onset is about 5-10 months. The puppies usually have to be euthanized 1 – 6 weeks after the appearance of first symptoms.

Breeds

Dalmatian

Order details
Test number8595
AbbreviationARDS
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexrespiratory
Inheritanceautosomal recessive
Age of onset5-10 months
Causalitycausally
GeneANLN
MutationC-T
LiteratureOMIA:002539-9615
Detailed description

In Dalmatians, a familial juvenile respiratory disease could be found that is very similar to the Acute respiratory distress syndrome (ARDS) in humans. The autosomal recessive inherited disease is caused by a mutation in the ANLN gene. The ANLN is mainly expressed in the lung and plays an important role in the cell division and development of intercellular junctions of the epithelial cells. The clinical signs of ARDS in Dalmatians are progressive tachypnea, dyspnea, respiratory distress, pulmonary lesions and some affected puppies also showed renal aplasia and hydrocephalus. The typical age of onset is about 5-10 months. The puppies usually have to be euthanized 1 – 6 weeks after the appearance of first symptoms. The described mutation is so far not found in other breeds than dalmatian.