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Respiratory Distress Syndrome

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Respiratory Distress Syndrome
Mutation
p.R11*
Mutation 2
c.31C>T
Test Type
Genetic Disease/Disorder
Details
Respiratory Distress Syndrome refers to a condition of sudden respiratory failure due to fluid accumulation and severe inflammation in the lungs. Breathing becomes labored, and the condition can be life-threatening.
Details 2
Acute respiratory distress syndrome (ARDS) is the leading cause of death in critical care medicine. The syndrome is typified by an exaggerated inflammatory response within the lungs. ARDS has been reported in many species, including dogs. We have previously reported a fatal familial juvenile respiratory disease accompanied by occasional unilateral renal aplasia and hydrocephalus, in Dalmatian dogs... Our study suggests that defective ANLN results in abnormal cellular organization of the bronchiolar epithelium, which in turn predisposes to acute respiratory distress. ANLN has been previously linked to a dominant focal segmental glomerulosclerosis in human without pulmonary defects. However, the lack of similar renal manifestations in the affected Dalmatians suggest a novel ANLN-related pulmonary function and disease association. (Holopainen et al, 2017)
Published
Holopainen, S., Hytönen, M.K., Syrjä, P., Arumilli, M., Järvinen, A.K., Rajamäki, M., Lohi, H. : ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. PLoS Genet 13:e1006625, 2017. Pubmed reference: 28222102. DOI: 10.1371/journal.pgen.1006625.
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