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Cystinuria is a genetic disorder that leads to recurrent urolith formation.
10 working days
Included tests
General Information
Cystinuria is a genetic disorder that leads to recurrent urolith formation. The disorder is associated with a mutation in the SLC7A9 gene. The mutation causes hyperexcretion of cystine in the urine and sebsequent precipitation of cystine.
Clinical signs include cystine stones in the kidneys, ureters, and bladder. Once a stone is formed, the following signs and symptoms can occur nausea, flank pain, urinary tract infections and rarely, acute or chronic kidney disease.
Additional information
This test is based on a genome wide association study. This study described multiple DNA variants that may be related to cystinuria. Each DNA variant is a “risk factor”. The inheritance is not yet known, but an incompletely recessive pattern is suggested.
Clinical features
References
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