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Familial nephropathy (FN) — English Cocker Spaniel (COL4A4)

Renal / urinario · Dog

Juvenile, fatal hereditary nephropathy of the English Cocker Spaniel due to a collagen IV defect (COL4A4): glomerulopathy with thickening and splitting of the glomerular basement membrane, progressive proteinuria and renal failure. A canine model of human Alport basement membrane nephropathy. It is inherited in an autosomal recessive manner. Test referred to an external laboratory.

Inheritance pattern	Autosomal recessive.
Gene / Mutation	COL4A4: English Cocker c.115A>T p.(Lys39) (exon 3; Davidson 2007). English Springer: c.2806C>T p.(Gln905) (Nowend 2012). (OMIA:002618)
Penetrance	High penetrance in homozygotes, with a juvenile presentation and progressive course towards renal failure; heterozygotes are healthy carriers.
Code	zual
Turnaround time	14 days
Price	61,11 €

Incidence

English Cocker Spaniel: frequency of the c.115T allele of 0,9 % in Brazil (Andrade 2020). Outside that series: limited data.

Breeder management

- Test the breeding animals before mating.\n- Do not cross two carriers: 25 %% risk of affected homozygotes; carrier×clear with tested offspring.\n- In the face of persistent juvenile proteinuria, include FN in the differential diagnosis and confirm by molecular test.\n- Record the status in the pedigree.

Specialist notes

Differential diagnosis: other juvenile glomerulopathies and chronic pyelonephritis. Renal biopsy (basement membrane) guides; the molecular test confirms. No curative treatment.

References

1. Davidson MG et al. 2007, causa genética de la nefropatía hereditaria autosómica recesiva del Cocker spaniel inglés (PMID 17552442)
2. Nowend KL et al. 2012, base genética de la ARHN en Springer spaniel inglés (PMID 22369189)
3. Andrade et al. 2020, frecuencia del alelo en Cockers ingleses de Brasil (PMID 32734115)
4. OMIA:002618 Nefropatía (COL4A4)

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