Protein Losing Nephropathy (PLN)

 

Gene: NPHS1

Transmission: Complex: Autosomal, recessive or autosomal dominant with variable penetration

Mutation: Substitution, NPHS1 gene; c.3067 G>A, exon22

Medical system: Renal

Breed: Airedale Terrier, Soft-coated Wheaten Terrier

Age of onset of symptoms: 4 to 8 years.

Protein Losing Nephropathy is an adult onset progressive kidney disease often associated with hypertension.  Signs usually occur after the animal’s reproductive years, making this a difficult disease to control on a breed basis.  Symptoms can be mild to severe, and include weight loss, weakness, vomiting and diarrhea, increased drinking (polydipsia) and urination (polyuria), and fluid accumulation in body cavities.  There are decreased protein levels in the blood and a corresponding increase in protein levels in the urine.  Treatment and diet modification are beneficial for dogs that are mildly affected.  The genetics of PLN is complex, with at least two mutations associated with the disease (in the NPHS1 and KIRREL2 genes), making current DNA testing unreliable.  In addition, the environment can influence the disease progression.  Dogs that are severely affected will usually die of kidney failure or are euthanized for humanitarian reasons.

 

References:

OMIA link: [1326-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Littman MP, Wiley CA, Raducha MG, Henthorn PS (2013) Glomerulopathy and mutations in NPHS1 and KIRREL2 in soft-coated Wheaten Terrier dogs.  Mamm Genome 24:119-126. [pubmed/23325127]

Littman MP, Dambach DM, Vaden SL, Giger U (2000) Familial protein-losing enteropathy and protein-losing nephropathy in Soft Coated Wheaten Terriers: 222 cases (1983-1997). J Vet Intern Med 14:68-80. [pubmed/10668820]