Cystinuria

Build-up of cystine in the kidney which leads to kidney stones and urinary tract inflammation

Symptoms
Difficulty in urinating, possible presence of blood in the urine. If left untreated, this disease can lead to kidney failure and the death of the dog.

Gene involved
SLC7A9

Mutation tested
c.881T>A

Transmission mode : Autosomal recessive
Age of onset : Between 1 and 4 years old

Publication : Mizukami et al. (2016). Cystinuria associated with different SLC7A9 gene variants in the cat.