Akutes Lungenversagen (ARDS)
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 number | 8595 |
Abbreviation | ARDS |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Test specifications
Symptom complex | respiratory |
Inheritance | autosomal recessive |
Age of onset | 5-10 months |
Causality | causally |
Gene | ANLN |
Mutation | C-T |
Literature | OMIA: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.