57,48 47,50 IVA esclusa

H703

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

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

Informazioni generali

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 Australian Cattle Dog.

Caratteristiche cliniche

Signs of a developed stone include cystitis (bladder inflammation), hematuria (bloody urine) and painful, frequent, strained urination in small volumes. Cystinuria can be diagnosed by identifying cysteine crystals in urine sediment.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 11129328

Omia ID: 256

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