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H645

Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

Informations générales

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 II-B, occurs in the Miniature Pinscher and is caused by a dominant mutation to the gene SLC7A9.

Caractéristiques cliniques

Cystinuria leads formation of cystine calculi (stones) in the kidney and/or bladder. Because males have long, narrow urethras compared to females, irritation and blockage by calculi is much more common in the male. Males with cystinuria suffer repeated inflammations of the urinary tract and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death. The genetic factor is continuously present, and can cause problems at every age.

Additional Information

Références

Pubmed ID: 24001348

Omia ID: 1880

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