Polycystic kidney disease (PKD) is an intractable disorder that causes fluid-filled cysts to grow in the kidneys. It is typically seen in adults. As one of the most prevalent hereditary kidney diseases, the autosomal dominant form of PKD is usually caused by mutations in the PKD1 and PKD2 genes.
Tokyo Medical and Dental UniversitySep 11 2024 Polycystic kidney disease is an intractable disorder that causes fluid-filled cysts to grow in the kidneys. It is typically seen in adults. As one of the most prevalent hereditary kidney disease s, the autosomal dominant form of PKD is usually caused by mutations in the PKD1 and PKD2 genes.
In a study published online on 16 July 2024 in Kidney International Reports, researchers from Tokyo Medical and Dental University addressed a key gap in understanding PKD. They performed a comprehensive genetic analysis of patients with PKD focusing exclusively on those without a family history of polycystic kidneys.
Sohara added, "The proportion of monoallelic loss-of-function IFT140 variants in this cohort was higher than that in previously reported cohorts with polycystic kidneys who had a positive family history," he adds.
Kidney Kidney Disease Polycystic Kidney Disease Autosomal Gene Genes Mutation Nephrology
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Genetic analysis sheds light on the role of IFT140 in polycystic kidney diseasePolycystic kidney disease (PKD) is an intractable disorder that causes fluid-filled cysts to grow in the kidneys. It is typically seen in adults. As one of the most prevalent hereditary kidney diseases, the autosomal dominant form of PKD is usually caused by mutations in the PKD1 and PKD2 genes.
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