ULTRASTRUCTURAL ANALYSIS OF ALPORT SYNDROME

ALPORT 综合征的超微结构分析

• 批准号: 6278251
• 负责人: ROBERT MILLER
• 金额: $ 3.69万
• 依托单位: UNIVERSITY OF MINNESOTA
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6278251
• 关键词: Alport syndrome; basement membrane; cellular pathology; clinical research; collagen; electron microscopy; human subject

Alport Syndrome is a hereditary from of progressive renal disease characterized by bloody urine (hematuria) and progressive renal failure and associated with hearing loss and eye abnormalities. Affected males all eventually progress to end stage renal failure while in affected females renal failure is delayed until later in life or does not occur. The genetic defect in most families results in the failure to produce and/or incorporate certain collagen chains into basement membranes of the body. This study utilizes new electron microscopic techniques in order to clarify the relationship of the missing collagen chains to the structural and functional manifestations of Alport Syndrome.

阿尔波特综合征是一种遗传性进行性肾病 以血尿和进行性肾功能衰竭为特征 并与听力损失和眼睛异常有关。 受影响的男性 所有患者最终都会进展为终末期肾衰竭 女性肾衰竭会延迟到晚年或不会发生。 大多数家庭的遗传缺陷导致无法生育 和/或将某些胶原链掺入到基底膜中 身体。 本研究利用新的电子显微镜技术 阐明缺失的胶原蛋白链与结构的关系 和阿尔波特综合征的功能表现。