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Peer-reviewed veterinary case report

Primary hyperoxaluria causing kidney damage in Coton de Tulear puppies

By Vidgren, G et al.·Published in Animal genetics·2012·Finnish Food Safety Authority Evira·View original on PubMed

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Original publication title: Primary hyperoxaluria in Coton de Tulear.

Species:
dog
Drinking & peeingDogs

Plain-English summary

A group of Coton de Tulear puppies, aged 3-4 weeks, suddenly became very ill and unfortunately died. A thorough examination revealed that they had a rare genetic condition called primary hyperoxaluria, which causes harmful crystals to form in the kidneys. Researchers found a specific genetic mutation linked to this condition in some of the puppies and noted that other Coton de Tulear dogs could also be carriers. This study suggests that genetic testing could help prevent future cases by identifying at-risk dogs before breeding.

People also search for: Coton de Tulear puppy illness · primary hyperoxaluria in dogs · genetic testing for Coton de Tulear · puppy kidney problems · causes of sudden puppy death

Abstract

Primary hyperoxaluria (PH) is a rare autosomal recessive disorder of glyoxylate metabolism in humans. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys. Deficiencies in glyoxylate-metabolizing enzymes alanine-glyoxylate aminotransferase (AGXT) or glyoxylate reductase/hydroxypyruvate reductase (GRHPR) occur in 95% of PH cases. Seven Coton de Tulear puppies from four apparently unrelated litters were examined owing to sudden illness at the age of 3-4 weeks. A complete necropsy was performed. The typical finding was tubular necrosis with extensive oxalate crystal deposition. Based on history and necropsy findings, PH was suspected. Eight microsatellite loci flanking AGXT and GRHPR were analysed, and based on segregation results, AGXT was suspected as to be the candidate gene. AGXT exon sequencing revealed a single base change (c.996G>A) that changed one conserved residue (p.Gly102Ser). The mutation was tested in of 118 Finnish Coton de Tulear dogs, ten (8.5%) of which were revealed as carriers. This preliminary study reports PH as a cause of neonatal death in Finnish Coton de Tulear and suggests that genetic testing of dogs be carried out before breeding to prevent the birth of affected offspring.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22486513/