• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Clinics and research in hepatology and gastroenterology >Porphyrias: A 2015 update
【24h】

Porphyrias: A 2015 update

机译：卟啉症：2015年更新

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The hereditary porphyrias comprise a group of eight metabolic disorders of the heme biosynthesis pathway. Each porphyria is caused by abnormal function at a separate enzymatic step resulting in a specific accumulation of heme precursors. Porphyrias are classified as hepatic or erythropoietic, based on the organ system in which heme precursors (delta-aminolevulinic acid [ALA], porphobilinogen and porphyrins) are overproduced. Clinically, porphyrias are characterized by acute neurovisceral symptoms, skin lesions or both. However, most if not all the porphyrias impair hepatic or gastrointestinal function. Acute hepatic porphyrias present with severe abdominal pain, nausea, constipation, confusion and seizure, which may be life threatening, and patients are at risk of hepatocellular carcinoma without cirrhosis. Porphyria Cutanea presents with skin fragility and blisters, and patients are at risk of hepatocellular carcinoma with liver iron overload. Erythropoietic protoporphyria and X-linked protoporphyria present with acute painful photosensitivity, and patients are at risk of acute liver failure. Altogether, porphyrias are still underdiagnosed, but once they are suspected, early diagnosis based on measurement of biochemical metabolites that accumulate in the blood, urine, or feces is essential so specific treatment can be started as soon as possible and long-term liver complications are prevented. Screening families to identify presymptomatic carriers is also crucial to prevent overt disease and chronic hepatic complications. (C) 2015 Elsevier Masson SAS. All rights reserved.
机译：遗传性卟啉症包括一组血红素生物合成途径的八个代谢紊乱。每个卟啉症是由单独的酶促步骤中的异常功能引起的，导致血红素前体的特定积累。根据过度产生血红素前体（δ-氨基乙酰丙酸[ALA]，胆色素原和卟啉）的器官系统，卟啉症可分为肝性或促红细胞性。临床上，卟啉症的特征是急性神经内脏症状，皮肤病变或两者兼有。但是，大多数卟啉症都会损害肝或胃肠功能。急性肝卟啉症伴有严重的腹痛，恶心，便秘，神志不清和癫痫发作，可能危及生命，并且患者有发生肝癌而无肝硬化的风险。皮肤卟啉单胞菌（Porphyria Cutanea）表现出皮肤脆弱和水泡，并且患者有肝细胞超重的肝细胞癌风险。红细胞生成原卟啉和X连锁原卟啉存在急性疼痛性光敏性，患者有急性肝衰竭的风险。总体而言，卟啉症仍未得到充分诊断，但是一旦被怀疑，基于对血液，尿液或粪便中积累的生化代谢产物的测量而进行的早期诊断是必不可少的，因此可以尽快开始特异性治疗，并且长期存在肝并发症预防。筛选家庭以识别症状前携带者对于预防明显的疾病和慢性肝并发症也至关重要。 （C）2015 Elsevier Masson SAS。版权所有。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号