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。 很少有专家具有丰富的知识和经验，在卟啉症的诊断和治疗。 因此，患者很难获得专家对其病情的建议。 这是一个试点项目，以评估远程医疗与视频电话会议的适用性，以咨询卟啉症或疑似卟啉症患者谁是在距离UTMB。 未来，将努力纳入UTMB拥有特殊专业知识的其他罕见或“孤儿”疾病。 该项目还可以促进与其他GCRC合作开展罕见病多中心研究。

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.