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Protein Losing Nephropathy (PLN) is a condition in which the kidneys lose significant amounts of protein, particularly albumin, into the urine.
10 Arbeidsdager
Only available in bundles
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Hos hunder kan PLN føre til en rekke symptomer, først og fremst relatert til tap av protein og dets effekter på kroppsfunksjoner. Symptomer kan omfatte væskeansamling i magen, huden og lemmer, og til slutt nyresvikt. Også vekttap, svakhet og sløvhet, nedsatt appetitt, oppkast eller diaré, dehydrering og økt (skummende) urin kan observeres.
Tilleggsinformasjon
Hunder som er homozygote for den PLN-predisponerende haplotypen, og dermed har aminosyresubstitusjonene i både NPHS1 og KIRREL2, har svært høy økt risiko for å utvikle PLN sammenlignet med hunder som er heterozygote eller homozygote for den ''normale'' haplotypen eller alleler.
Referanser
Pubmed ID: 23325127
Omia ID: 1326