GENETIC STUDIES OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。这项研究旨在更好地了解多囊肾病(PKD)的遗传学，PKD是一种遗传性疾病，发生在PKD患者多达一半的子女中。研究参与者之所以被纳入，是因为他们患有PKD，有患PKD的风险，或者是PKD家庭中未受影响的成员。研究人员尤其感兴趣的是，为什么PKD的症状和进展在个人和家庭之间存在差异。这项研究着眼于PKD中两个常见的基因突变部位：PKD1基因(85%的受影响者)和PKD2基因(15%的受影响者)。这两个基因在PKD的严重程度上存在差异，与携带PKD2基因的人相比，PKD1基因导致肾衰竭的频率更高，而且年龄更小。这项研究还将研究其他基因对PKD严重程度的影响。接受研究的高危个体将被告知他们是否患有PKD，腹部超声显示的肾或肝囊肿证明了这一点。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This study is intended to better understand the genetics of Polycystic Kidney Disease (PKD), an inherited disease occurring in up to half of the children of a person with PKD. Study participants are included because they have PKD, are at risk for PKD or are an unaffected member of a family with PKD. The investigators are especially interested in understanding why PKD symptoms and progression to renal failure varies among individuals and families. This study looks at the two common sites of gene mutation in PKD: the PKD1 gene (85% of those affected) and the PKD2 gene (15% of those affected). There is a difference in the severity of PKD between the two genes, with the PKD1 gene resulting in kidney failure more frequently and at a younger age than those with the PKD2 gene. This study will also look at the effects of other genes on the severity of PKD. At-risk individuals who are studied will be informed whether they do or do not have PKD as evidenced by the appearance of kidney or liver cysts by abdominal ultrasound.