Barbera Veldhuisen

TL;DR: A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning and it has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD 1, and the family of voltage-activated calcium channels.

TL;DR: Serum levels of AAT are correlated with the severity of pulmonary phenotype, and subjects with Null mutations should be considered a subgroup at particularly high risk of emphysema within AAT deficiency (AATD).

TL;DR: It is suggested that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin-2, which shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium channels.

TL;DR: There are reduced levels of normal polycystin-2 protein in lymphoblast lines from PKD2-affected individuals and that truncated mutant polycystic kidney disease cannot be detected in patient lymphoblasts, suggesting that the latter may be unstable in at least some tissues.

TL;DR: The identification of groups of mutations in the PKD2 gene, which differ significantly with respect to clinical outcome, is to the authors' knowledge the first description of a genotype/phenotype correlation in autosomal dominant polycystic kidney disease.