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Canine Hereditary Nephritis (HN) is a group of hereditary glomerular diseases of the kidneys, which often progress to renal failure.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | X |
| Mutation | c.3079G>T |
| Mode of Inheritance | Ligado a cromosoma X |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | HN |
Información específica de la prueba
Canine Hereditary Nephritis (HN) is a group of hereditary glomerular diseases of the kidneys, which often progress to renal failure. X-linked nephritis is caused by mutations in the alpha 5 chain of collagen type IV (COL4A5). This variant of the disorder is found in the Samoyed. A related variant has also been observed in the Navasota dog.
Características clínicas
Los signos clínicos incluyen proteinuria y el desarrollo de insuficiencia renal rápidamente progresiva. Los síntomas suelen ser mortales antes de 1 año de edad. Aproximadamente el 31% de las mujeres portadoras de samoyedos desarrollan enfermedad renal leve y el 38% progresan a la etapa final de la enfermedad renal.
Información adicional
Referencias
Pubmed ID: 8171024
Year published: 1994
Omia ID: 1112
Omia variant ID: 276