GENETIC STUDIES OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

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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.