威尔逊病|Diagnosis & Treatment
How is Wilson disease diagnosed?
威尔逊的疾病诊断,因为它是困难的s symptoms resemble those of many other conditions. A health care provider will typically take a medical and family history and may perform a variety of tests to determine whether a child has Wilson disease:
- 病史，包括有关减肥，呕吐，疲劳和威尔逊病症状的问题
- family history to determine if other members of the family have Wilson disease
- 身体检查以检测贫血，脚或腿部肿胀或腹胀等物理体征
- 眼科检查以寻找Kayser-Fleischer戒指
- 肝biopsy to determine the amount of copper in the liver
- 尿液分析以在尿液中寻找高水平的铜
- 血液测试以测试血液中低水平的ceruloplasmin（铜蛋白）
这health care provider may also recommend genetic testing to detect the gene mutation for Wilson disease.
威尔逊病如何治疗？
Treatment for Wilson disease involves oral medications that help the liver excrete copper and prevent it from accumulating again.
通过与铜（称为螯合的过程）结合并导致其通过尿液排出的药物，例如青霉素和Trientine的作用。威尔逊疾病的儿童每天需要几次服用这些药物。
这clinician will recommend avoiding foods that are high in copper. These include the following:
- 蘑菇
- nuts
- 巧克力
- dried fruit
- 肝
- shellfish
一旦将现有的铜从人体中取出，一些孩子可能会改用锌治疗。锌有助于阻断人体的吸收铜。
在威尔逊病带来的肝病的晚期阶段，可能需要进行肝移植。
威尔逊疾病患者的长期前景
通过适当的诊断和治疗，威尔逊疾病的进展可以停止，症状可能会改善。
尽早诊断和治疗威尔逊病很重要。该疾病的症状是进行性的，未经治疗可能会导致不可逆转的损害。