Nefropatia con perdita di proteine (PLN, NPHS1-correlata)

Protein Losing Nephropathy (PLN) is a condition in which the kidneys lose significant amounts of protein, particularly albumin, into the urine. This happens when the kidney’s filtration system (specifically the glomeruli) becomes damaged, allowing proteins that should be retained in the blood to pass into the urine. This leads to muscle wasting, abnormal fluid accumulation in the skin and limbs, and kidney failure.

Dogs carrying one or two copies of this mutation are at risk for developing PLN, with those possessing two copies having a significantly higher likelihood of the disease. However, this mutation is incompletely penetrant, indicating that other genetic and environmental factors also play a role in the disease’s development.

Risk assessment for PLN in the Soft Coated Wheaten Terrier and Airedale Terrier can be done by screening for two different mutations (one on gene KIRREL2 and one on gene NPHS1) that both code for proteins that determine the size of the molecules that can pass into the urinary space. The mutation tested here is NPHS1.