肝 卟啉症
Overview
Porphyrins are pigments made by the liver and other tissues. They are involved in the formation of many important substances in the body, 比如血红蛋白, 哪一种在血液中携带氧气.
Many genes are involved in the production of porphyrins. 如果其中一个基因突变了, 可发生肝性卟啉症, resulting in an abnormal increase of pigments in the body. There are two types of porphyria: cutaneous and acute.
Genetic porphyria often is "silent," meaning that the genetic change causes 症状 only in the presence of certain environmental triggers, 比如饮酒, inadequate diet and certain medications – especially sedatives related to barbiturates, anti-seizure drugs and oral contraceptives. Excess iron and estrogen play a role in some patients, and there also is a frequent association with 丙型肝炎 肝脏疾病.
Our approach to hepatic porphyria
UCSF's dedicated team of hepatologists delivers cutting-edge, compassionate care for all kinds of liver disorders, 包括肝性卟啉症. Treatment for hepatic porphyria focuses on avoiding triggers – 比如饮酒 or too much iron in the body – that lead to 症状.
病人 with excess iron may need to have set amounts of blood withdrawn at regular intervals. Over time, this lowers iron to normal levels and decreases 症状 such as sun sensitivity.
奖 & 识别
-
Among the top hospitals in the nation
-
One of the nation's best in gastroenterology & 胃肠道手术
迹象 & 症状
Symptoms vary depending on the type of porphyria, but some of the more common include:
- 尿色深
- 皮肤敏感, 包括起泡, 暴露在光线下的区域, such as the face and back of hands
- 腹部疼痛
- 恶心想吐
- 癫痫发作
诊断
In making a diagnosis of hepatic porphyria, your doctor will start by conducting a thorough physical examination and asking about your medical history, including any 症状 you have been experiencing. 除了, 你的尿液化验结果, blood and feces will be conducted to make a definite diagnosis.
治疗
Treatment for hepatic porphyria depends on the type. 然而, for both cutaneous and acute porphyria, the first step of therapy involves identifying and eliminating the precipitating factors, 比如酒精, certain medication or excess iron.
皮肤卟啉症
For patients with cutaneous porphyria whose iron levels are high, iron depletion is recommended. This involves removing the excess iron from the body by drawing your blood, usually a pint at a time in regular intervals. This is done in the same way in which blood is drawn from donors at blood banks.
When the body replenishes the blood, it draws iron from storage sites such as the liver. 随着时间重复, this process eventually eliminates the excess iron and leads to reduced porphyrin levels and improved sun tolerance.
严重的卟啉症
The best form of treatment for acute porphyria is prevention. 因此, your family members should be tested, to identify those who are also at risk of having an acute attack.
When acute porphyria progresses despite elimination of triggering factors, 住院治疗是必要的. Specific treatment involves administration of intravenous hematin, which compensates for the genetic deficiency.
加州大学旧金山分校健康 medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
