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Cystinuria is a hereditary renal transport disorder.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informations générales
Cystinuria is a hereditary renal transport disorder. The disease causes an error of the metabolism, which leads to the formation of cystine crystals and uroliths in the urinary tract. The formation can result in stranguria, hematuria, urinary obstruction and renal failure. The disorder is caused due to a mutation in the solute carrier family 3 (amino acid transporter heavy chain) member 1 (SLC3A1) gene.
Caractéristiques cliniques
Clinical signs include hematuria, dysuria, pollakiuria, urinary obstruction with postrenal failure.
Additional Information
This test is based on an association study.
Références
Pubmed ID: 25417848
Omia ID: 256