About Cystinuria type A
What is Cystinuria type A?
Cystinuria type A is a rare inherited disorder that affects the kidneys and causes an excessive amount of the amino acid cystine to be excreted in the urine. This can lead to the formation of cystine stones in the kidneys, bladder, and ureters, which can cause pain and blockage of the urinary tract. Treatment typically involves medications to reduce the amount of cystine in the urine, as well as dietary changes and increased fluid intake.
What are the symptoms of Cystinuria type A?
The symptoms of Cystinuria type A can vary from person to person, but may include:
-Frequent and painful urination
-Cloudy or bloody urine
-Nausea and vomiting
-Frequent urinary tract infections
-Loss of appetite
What are the causes of Cystinuria type A?
Cystinuria type A is caused by a genetic mutation in the SLC3A1 gene, which is responsible for the production of a protein called rBAT (renal-specific b0,+ amino acid transporter). This protein is responsible for transporting cystine, lysine, arginine, and ornithine out of the kidneys and into the urine. Mutations in this gene can cause cystine to accumulate in the kidneys, leading to cystinuria type A.
What are the treatments for Cystinuria type A?
The main treatments for Cystinuria type A are dietary modifications, medications, and hydration. Dietary modifications include reducing the intake of cystine-containing foods such as red meat, poultry, fish, eggs, and dairy products. Medications such as alpha-mercaptopropionylglycine (tiopronin) and penicillamine can be used to reduce the amount of cystine in the urine. Hydration is also important to help flush out the cystine from the body. In some cases, surgery may be necessary to remove stones that have formed in the urinary tract.
What are the risk factors for Cystinuria type A?
The risk factors for Cystinuria type A include:
1. Family history: Cystinuria type A is an inherited disorder, so having a family history of the condition increases the risk of developing it.
2. Age: Cystinuria type A is more common in children and young adults.
3. Gender: Cystinuria type A is more common in males than females.
4. Ethnicity: Cystinuria type A is more common in people of Ashkenazi Jewish descent.
Is there a cure/medications for Cystinuria type A?
Yes, there are medications available to treat cystinuria type A. These medications work by increasing the amount of water in the urine, which helps to reduce the amount of cystine crystals that form. Additionally, certain dietary changes may be recommended to reduce the amount of cystine in the urine. In some cases, surgery may be necessary to remove the cystine crystals from the kidneys.