What is cystinuria?

Cysteinuria is an inherited metabolic disorder that can lead to high levels of cysteine ​​in the body, causing problems such as stones, vascular disease and nerve damage, and requires prompt treatment and management. Common treatments include medication, dietary changes and vitamin supplements.

1 Causes and mechanisms of disease

Cysteinuria is a disease caused by abnormal function of the enzyme responsible for metabolizing cysteine ​​in the body, mainly caused by gene mutation. The human body needs a specific enzyme to break down cysteine ​​into other non-toxic components. When this enzyme is insufficient or completely missing, cysteine ​​will accumulate in the body. Its inheritance is mostly autosomal recessive, which means that the patient needs to inherit the abnormal gene from both parents. At the same time, the occurrence of this disease is not affected by gender, and its symptoms can manifest at any age.

2Possible symptoms and damage

When cysteine ​​cannot be metabolized, it is excreted through urine and easily deposited in the urinary tract to form stones, which is the most common clinical manifestation. Because high concentrations of cysteine ​​may damage the vascular endothelium, some patients will experience accelerated atherosclerosis and vascular lesions, and may also affect the eyes, bones and nervous system. In severe cases, it may even lead to dislocation of the eye lens, intellectual disability or bone deformity.

3 Treatment and management options

The goal of treating cystinuria is to reduce the concentration of cysteine ​​in the body and avoid related complications. The following are several main methods:

Drug treatment: D-penicillamine is a commonly used drug that can combine with cysteine ​​to form a soluble complex and promote urinary excretion. Another drug, pyridoxine vitamin B6, is suitable for certain types of patients and helps enhance enzyme activity.

Dietary regulation: Patients are advised to limit the intake of high-methionine foods, such as eggs, animal offal and meat, etc. This dietary adjustment can reduce the formation of cysteine ​​during metabolism.

Vitamin supplementation: Individuals with this disease often need to supplement folic acid, vitamin B12 or other auxiliary nutrients to better support metabolic function and avoid the secondary effects of deficiency.

4 Life management and preventive measures

Patients with cystinuria usually require long-term monitoring. Regular blood and urine tests are performed to monitor changes in cysteine ​​levels and adjust treatment in a timely manner. Increasing water intake and maintaining high urine output can help dilute urine and reduce the risk of stone formation. Regular imaging examinations are also required to detect potential stones and tissue damage.

This disease requires lifelong management. Although it cannot be cured at present, the risk of complications can be effectively controlled through reasonable treatment. Patients should work closely with their doctors, undergo regular check-ups, and adjust management strategies to improve their quality of life.