Familial nephropathy in the Cocker Spaniel

Steward, Adrian P.; Macdougall, D.F.

doi:10.1111/j.1748-5827.1984.tb00475.x

Cited by 24 publications

(11 citation statements)

References 14 publications

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“…[2][3][4] Later studies demonstrated that the disease was inherited in an autosomal recessive fashion and that the primary renal lesions involved glomeruli. [5][6][7][8] With these developments, ''familial nephropathy'' became the diagnostic term most widely used for the disease. We believe that hereditary nephropathy is the most appropriate di-agnostic term for this type of primary glomerular disease in dogs.…”

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Genetic Cause of Autosomal Recessive Hereditary Nephropathy in the English Cocker Spaniel

Davidson

Bell

Lees

et al. 2007

Veterinary Internal Medicne

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Background: Autosomal recessive hereditary nephropathy (ARHN) in the English Cocker Spaniel is caused by a type IV collagen defect, but the underlying mutation is unknown.Animals: One hundred thirty-four English Cocker Spaniels (12 with ARHN, 8 obligate carriers, and 114 others), 3 mixed breed dogs with X-linked hereditary nephropathy (XLHN), and 7 other dogs without hereditary nephropathy were included.Methods: Diagnosis of ARHN was based on transmission electron microscopy and immunostaining of kidney. Quantitative real time reverse transcriptase polymerase chain reaction (qRT-PCR) was used to compare COL4A3, COL4A4, and COL4A5 mRNA concentrations in the renal cortex from ARHN-affected English Cocker Spaniels, XLHN-affected dogs, and dogs without hereditary nephropathy. The entire coding region of COL4A4 was sequenced in 2 ARHN-affected dogs, 2 obligate carriers, 2 English Cocker Spaniels of unknown status, and 2 healthy mixed breed dogs. The exon containing the mutation was sequenced for all 134 English Cocker Spaniels.Results: Quantitative real time RT-PCR implicated COL4A4 as the gene harboring the mutation, and sequencing identified a single nucleotide substitution at base 115 as the cause of ARHN in English Cocker Spaniels. This mutation, which causes a premature stop codon in exon 3 of COL4A4, was segregated with clinical status in all affected dogs and obligate carriers. The mutation also was identified in 39 of 114 other English Cocker Spaniels with previously unknown status.Conclusions and Clinical Importance: The cause of this disease has been identified, and use of a test for the mutation will permit eradication of ARHN in the English Cocker Spaniel.

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Genetic Cause of Autosomal Recessive Hereditary Nephropathy in the English Cocker Spaniel

Davidson

Bell

Lees

et al. 2007

Veterinary Internal Medicne

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“…Inherited glomerulopathies have been described in the Bull Terrier, 12 Cocker Spaniel, 10,16,27 Samoyed, 1,2 Shih Tzu, 13 Soft Coated Wheaten Terrier, 24 and Bernese Mountain Dog. 22,26 A hereditary basis for glomerulopathy is also highly likely in the Doberman Pinscher 4,30 and the Newfoundland dog.…”

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Familial Glomerulonephropathy in the Bullmastiff

et al. 2004

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Glomerular disease was diagnosed by histopathologic examination in 11 related Bullmastiff dogs, and clinical and laboratory data were collected retrospectively. Four female and seven male dogs between the ages of 2.5 and 11 years were affected. Clinical signs, including lethargy and anorexia, were nonspecific and occurred shortly before death or euthanasia. In five affected dogs serial blood samples were obtained, and dramatically elevated blood urea nitrogen and creatinine levels were demonstrated up to 2.75 years before death. Protein-creatinine ratios were elevated in six of six dogs and were above normal 3.5 years before death in one dog. The kidneys appeared grossly normal to slightly smaller than normal at necropsy. Histologic abnormalities of the kidneys were consistent with chronic glomerulonephropathy with sclerosis. Examination of the pedigrees of related affected dogs yielded evidence supporting an autosomal recessive mode of inheritance.

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“…Although both parents of such a dog were obligate carriers of the condition, this entire scenario happened too infrequently and sporadically to permit breeders to confidently identify carriers well enough to eradicate the disease. Therefore, an autosomal recessive form of HN persisted in the English Cocker Spaniel breed world‐wide from the mid‐1940s until about 2007, when the causative mutation was identified and a genetic test for carriers became available . Since then, however, English Cocker Spaniel breeders have been able to reliably avoid mating carriers to one another, which has extinguished further production of HN‐affected English Cocker Spaniels in recent years.…”

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confidence: 99%