Current and innovative emerging therapies for porphyrias with hepatic involvement

摘要: Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the haem synthesis pathway, which result abnormal accumulation of pathway intermediates. The symptoms depend upon chemical characteristics these substances. Porphyrins photoreactive and cause photocutaneous lesions on sunlight-exposed areas, whereas porphyrin precursors is related to acute neurovisceral attacks. Current therapies suboptimal mostly address rather than underlying disease mechanisms. Advances understanding molecular bases pathogenesis porphyrias have paved way for development new therapeutic strategies. In this Clinical Trial Watch we summarise basic principles emerging approaches what currently known about their application hepatic origin or with involvement.