Familial Nephropathy
Protein Losing Nephropathy causes inappropriate loss of protein in the urine. Certain parts of the kidney act as a sieve where ions, small molecules like urea, and water are filtered out of the blood into the urine. In PLN, the sieve is compromised and protein moves in the urine. This leads to muscle wasting, abnormal fluid accumulation in the skin and limbs, and kidney failure.
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Signs and symptoms
Affected dogs exhibit muscle wasting, abnormal accumulation of fluids in tissue (usually first observed as edema in the limbs), and excessive thirst and urination. PLN dogs are at high risk of clotting problems due to a loss of clotting proteins. Finally, excessive protein is toxic to the kidney, so dogs develop signs of kidney failure: vomiting, poor appetite, lethargy, and changes in thirst and urination.
Signs typically develop as early as 2-3 months of age and rapidly progress in severity. -
Diagnosis
PLN is diagnosed through genetic, urine and blood testing. Additional tests, including blood pressure and abdominal ultrasound, may be recommended based on your dog’s clinical signs. There are secondary causes of PLN not associated with genetic mutations.
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Treatment
Current therapies for PLN are aimed at reducing the protein load on the kidney and fighting the toxic effects of protein wasting. Dietary and medication recommendations are based on how clinically advanced the PLN is. Dialysis, kidney transplants, and gene therapy are being explored as potential treatment options.
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What to do if your dog is at risk
Actions
- Regular veterinary visits and laboratory testing will be vital to catching this disease in any early stage where it can be more easily managed.
- Closely monitor your dog for changes in their drinking and urination patterns.
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Genetic Information
This mutation was first described in the English Cocker Spaniel.
This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.
Gene names:
COL4A4 (Exon 3) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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