Cystinuria is a rare genetic disorder that affects the kidneys and leads to the formation of kidney stones. It is characterized by the impaired reabsorption of the amino acid cystine in the kidneys, resulting in its excessive excretion in the urine. Cystine, being poorly soluble, can accumulate and form crystals, which eventually develop into stones. These stones can vary in size and may cause severe pain, blood in the urine, and recurrent urinary tract infections.
Cystinuria is an inherited condition caused by mutations in specific genes responsible for the transport of cystine in the kidneys. It follows an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Although rare, cystinuria can affect both males and females.
Treatment for cystinuria focuses on preventing the formation of kidney stones and managing symptoms. This typically involves increasing fluid intake to dilute the urine, maintaining a low-sodium and low-protein diet, and taking medications to reduce cystine levels in the urine. In some cases, surgical intervention may be necessary to remove larger stones that cannot pass naturally.
If you suspect you or someone you know may have cystinuria, it is important to consult with a healthcare professional for proper diagnosis and personalized treatment options.
by Diseasemaps