Ninth International Primary Hyperoxaluria Workshop

描述(申请人提供)：原发性高草酸尿症是一种罕见的遗传性疾病，常导致肾功能衰竭和过早死亡。由于症状与结石病和其他肾脏疾病相似，它的诊断通常较晚。除了一小部分对吡哆醇治疗完全有反应的人外，还没有已知的治愈方法。第九届国际高草酸尿症国际讲习班将于2010年8月在纽约举行，作为国际儿科肾病学会第十五届大会的一个卫星会议。自1990年以来，该讲习班每2-3年举行一次，是科学家和内科科学家举行的唯一一次会议，专门讨论与该病的诊断、治疗和病理生理学有关的所有问题。这次会议是分享信息、培养新想法和形成合作的宝贵资源。这次会议将是第一次与IPNA会议同时举行的会议，并将提供一个独特的机会，教育儿科肾科医生关于该病的所有方面，特别是其诊断和治疗。同时举行的半天会议将专门对受影响的个人及其家人进行有关疾病方面的教育。请拨出资金以协助讲习班实现以下目标：(1)将基础科学家和内科科学家与一系列专家聚集在一起，讨论关于原发性高草酸尿症的病因、诊断和治疗的当前想法。(2)提供鼓励科学互动的场所和环境。(3)促进思想和研究策略的传播，这可能导致对原发性高草酸尿症的病因和发病机制有新的认识，并制定新的治疗策略。(4)促进新的年轻研究人员进入原发性高草酸尿症和其他草酸相关疾病领域。(5)向肺高压患者、家人和朋友通报我们对肺高压的认识和临床治疗的最新进展。 公共卫生相关性：原发性高草酸尿症是一种罕见的遗传性疾病，在全球有限数量的研究实验室中进行研究。这次会议将把这些调查人员聚集在一起，讨论最新的进展。交流的知识、产生的想法和形成的合作应该会产生新的信息，这些信息可以用来改进疾病的诊断和治疗，以及增加我们对其病理生理学的理解。

DESCRIPTION (provided by applicant): Primary Hyperoxaluria is a rare genetic disease that often results in kidney failure and premature death. It often has a late diagnosis due to the similarity of symptoms to stone disease and other kidney diseases. There is no known cure apart from a small percentage of individuals who respond completely to pyridoxine therapy. The 9th International Primary Hyperoxaluria Workshop will be held in New York in August 2010 as a satellite meeting of the 15th Congress of the International Pediatric Nephrology Association. The Workshop has been held every 2 - 3 years since 1990 and represents the only meeting where scientists and physician scientists meet to specifically discuss all issues related to the diagnosis, therapy and pathophysiology of the disease. This meeting has been an invaluable resource for sharing information, fostering new ideas and forming collaborations. This meeting will be the first to be held conjointly with the IPNA meeting and will provide a unique opportunity to educate pediatric nephrologists on all aspects of the disease, but particularly its diagnosis and treatment. One half day session run in parallel will be devoted to educating affected individuals and their families on relevant aspects of the disease. Funds are requested to assist the Workshop in meeting its goals of (1) Bringing together basic scientists and physician scientists with a range of expertises to discuss current ideas on the causes, diagnosis and treatment of the primary hyperoxalurias. (2) Providing a venue and environment that encourages scientific interactions. (3) Promoting the dissemination of ideas and research strategies, that might lead to novel insights into the etiology and pathogenesis of the primary hyperoxalurias and the formulation of new treatment strategies. (4) Facilitating the entry of new, young researchers into the field of primary hyperoxaluria and other oxalate-related diseases. (5) Informing PH patients, families and friends of the latest advances in our understanding and clinical management of PH. PUBLIC HEALTH RELEVANCE: Primary Hyperoxaluria is a rare genetic disease that is studied in a limited number of research laboratories around the globe. This meeting will bring these investigators together to discuss the latest advances. The knowledge exchanged, the ideas generated, and the collaborations formed should lead to novel information that can be used to improve the diagnosis and treatment of the disease as well as increasing our understanding of its pathophysiology.