STUDIES IN PORPHYRIA VII--TELEMEDICINE IN RARE DISEASES

卟啉症是一种罕见的复杂的代谢性疾病，由于缺乏（通常是遗传性的）参与血红素合成的酶。在卟啉症的诊断和治疗方面，很少有专家具有丰富的知识和经验。因此，患者很难获得有关其病情的专家建议。这是一个试点项目，旨在评估远程医疗与视频电话会议的适用性，以咨询远离UTMB的卟啉症或疑似卟啉症患者。今后，将努力将联科医院具有特殊专门知识的其他罕见病或“孤儿”病纳入其中。作为与其他GCRC的合作努力，该项目还可促进罕见病多中心研究的开展和开展。

Porphyrias are uncommon, complex metabolic diseases due to deficiencies (usually inherited) of enzymes involved in the synthesis of heme. There are few specialists with extensive knowledge and experience in the diagnosis and treatment of porphyrias. Therefore, patients have difficulty obtaining expert advice on their condition. This is a pilot project to assess the applicability of telemedicine with video-teleconferencing to consultation on patients with porphyria or suspected porphyria who are at the distance from UTMB. In the future, an effort will be made to include other rare or "orphan" diseases for which there is particular expertise at UTMB. This project may also facilitate the development and conduct of multicenter studies on rare diseases as a cooperative effort with other GCRC's.