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Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Generell informasjon
Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine. This buildup can form into painful kidney and bladder stones, which can cause further complications such as obstructed urine flow and may ultimately require an operation to remove. Dogs with cystinuria can be fed a special diet to minimize the chances of the formation of cysteine stones.
This particular type of the disease, Cystinuria type I-A, is caused by a recessive mutation to the gene SLC3A1. The variant analysed in this test occurs in the Newfoundland. A closely related variant is also found in the Labrador Retriever and in the English and French Bulldogs.
Kliniske egenskaper
Tegn på en utviklet urinstein inkluderer cystitt (blærebetennelse), hematuri (blodig urin) og smertefull, hyppig og anstrengt vannlating i små mengder. Cystinuri kan diagnostiseres ved å identifisere cysteinkrystaller i urinsediment.
Tilleggsinformasjon
Referanser
Pubmed ID: 11129328
Omia ID: 256