Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable kidney disease, affecting 1 in 1,000 people.1 The majority of familial cases involve mutations in PKD1 (78%) or PKD2 (15%), and the remainder have responsible variants of a variety of genes such as GANAB, DNAJB11, and IFT140.2 For nephrologists, caring for patients with polycystic kidney disease (PKD) often means caring for an entire family.
Lee Casati is an active member of the Milwaukee, Wisconsin, PKD Foundation chapter as well as the National Kidney Foundation of Wisconsin. He was diagnosed with high blood pressure in his mid-20s but was not diagnosed with kidney disease until his 50s. He recalled, “My mom was pretty healthy when I was diagnosed at 50. She didn’t have any symptoms or treatments for her kidney disease, and it was diagnosed on autopsy after she passed away at age 75.”
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