FN, Familial Nephropathy – English Springer Spaniel
Kodas: H633
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Short description
Hereditary nephropathy (HN) is a progressive fatal renal disease, also known as renal cortical hypoplasia and familial nephropathy (FN).
General information
Hereditary nephropathy (HN) is a progressive fatal renal disease, also known as renal cortical hypoplasia and familial nephropathy (FN). This disease is caused by a mutation in the COL4A4 gene which leads to a defect in the glomerular basement membrane (GBM). This defect causes a disruption in the function and structure of kidneys.
Specifications
| Breeds | |
|---|---|
| Gene | COL4A4 |
| Chromosome | 25 |
| Mutation | c.2806C>T |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | ARHN; HN; FN |
Clinical features
Proteinuria, hypoalbuminemia, azotemia and progressive renal failure.
References
Pubmed ID: 22369189
Year published: 2012
Omia ID: 2618
Omia variant ID:
Turnaround information
- 10 working days