SNP Shot: Genomic Insights

Cystinuria is a disorder where cystine, an amino acid and component of proteins, accumulates in the kidneys and bladder. Typically, the kidneys reabsorb cystine back into the blood during urine production. However, in individuals with cystinuria, this reabsorption process is impaired, leading to excessive cystine levels in the urine.

When urine concentrates in the kidneys, the surplus cystine precipitates into crystals. These crystals can grow into larger stones that obstruct the kidneys or bladder. Cystine crystals can also bind with calcium, forming larger stones. These crystals and stones can obstruct the urinary tract, hindering the kidneys' ability to filter waste. Furthermore, these stones can become breeding grounds for bacterial infections.

Inheritance:

Cystinuria follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to manifest. Individuals with only one copy of the mutated gene are carriers, usually without symptoms, but can pass the gene to their children.