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Cystinuria is a hereditary renal transport disorder.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | A3 |
| Mutation | c.1342C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
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
Year published: 2015
Omia ID: 256
Omia variant ID: 141