Hyperuricemia (HUU, SLC2A9-related)
Kodas: H811
Short description
Hyperuricosuria and Hyperuricemia (HUU) is the presence of unusually high amounts of the waste product uric acid in the urine and blood, respectively.
General information
Hyperuricosuria and Hyperuricemia (HUU) is the presence of unusually high amounts of the waste product uric acid in the urine and blood, respectively. The disorder may lead to urolithiasis (kidney and bladder stones), which in turn can result in potentially severe urinary tract blockages. In dogs, the disorder is caused by a recessive mutation to the gene SLC2A9.
HUU can occur in any breed, though it is more commonly found in specific breeds for example in Dalmatians, German Hunting Terriers and Majorca Mastiffs. These breed therefore have an increased risk for urolithiasis.
Specifications
| Breeds | German Spitz (Pomeranian), Large Munsterlander, Schnauzer (Giant), Schnauzer (Miniature), American Bulldog, American Staffordshire Terrier, Australian Shepherd, Black Russian Terrier, Boerboel, Dalmatian, English Bulldog, French Bulldog, German Shepherd, Jack Russell Terrier, Labrador Retriever, Parson Russell Terrier, Spanish Water Dog, Weimaraner |
|---|---|
| Gene | SLC2A9 |
| Chromosome | 3 |
| Mutation | c.563G>T |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | HUU |
Clinical features
Clinical features are high uric acid levels, which may result in bladder stones.
Symptoms of urinary stones can include straining to urinate, frequent urination, bloody urine and in advanced cases life-threatening urinary tract obstruction. Surgery is often needed to remove the stones. The likelihood of developing urate stones can be reduced by using specialized nutrition.
References
Pubmed ID: 18989453
Year published: 2008
Omia ID: 1033
Omia variant ID:
Turnaround information
- 10 working days