Disease overview

Surfactant metabolism dysfunction is a disorder in which there is insufficient pulmonary surfactant needed for appropriate respiration. Surfactant is a compound found in the respiratory tract that is responsible for maintaining surface tension to prevent the lung from collapsing during respiration.

Gene name

LAMP3

Inheritance

Autosomal recessive lethal

Signs and symptoms

This condition is fatal and leads to hypoxic respiratory distress and failure upon birth, or soon after. Clinical signs include stillbirth, increased heart rate, and difficulty breathing.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Examination of the lungs grossly as well as histologically can give a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Dillard KJ, Ochs M, Niskanen JE, Arumilli M, Donner J, Kyöstilä K, Hytönen MK, Anttila M, Lohi H. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet. 2020 Mar 9;16(3):e1008651. doi: 10.1371/journal.pgen.1008651. PMID: 32150563; PMCID: PMC7082050.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.