A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.

http://science.sciencemag.org/content/sci/272/5266/1339.full.pdf

PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,148 bp (including a correction to the previously described C terminus), distributed among 46 exons spanning 52 kb. The predicted PKD1 protein, polycystin, is a glycoprotein with multiple transmembrane domains and a cytoplasmic C-tail. The N–terminal extracellular region of over 2,500 aa contains leucine–rich repeats, a C–type lectin, 16 immunoglobulin–like repeats and four type III fibronectin–related domains. Our results indicate that polycystin is an integral membrane protein involved in cell–cell/matrix interactions.

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

https://repub.eur.nl/pub/55815/REPUB_55815_OA.pdf

The polycystic kidney-disease-1 gene encodes a 14-kb transcript and lies within a duplicated region on chromosome-16

Background/Aims: In this retrospective study we aimed to compare the effect of tranexamic acid (TXA) vs etamsylate, two hemostatic agents, on hematuria duration i

/pdf/treatment-of-persistent-gross-hematuria-with-tranexamic-acid-2t8ob386xv.pdf

Treatment of Persistent Gross Hematuria with Tranexamic Acid in Autosomal Dominant Polycystic Kidney Disease

Individuals who are at risk for autosomal dominant polycystic kidney disease are often screened by ultrasound using diagnostic criteria derived from individuals with mutations in PKD1. Families with mutations in PKD2 typically have less severe disease, suggesting a potential need for different diagnostic criteria. In this study, 577 and 371 at-risk individuals from 58 PKD1 and 39 PKD2 families, respectively, were assessed by renal ultrasound and molecular genotyping. Using sensitivity data derived from genetically affected individuals and specificity data derived from genetically unaffected individuals, various diagnostic criteria were compared. In addition, data sets were created to simulate the PKD1 and PKD2 case mix expected in practice to evaluate the performance of diagnostic criteria for families of unknown genotype. The diagnostic criteria currently in use performed suboptimally for individuals with mutations in PKD2 as a result of reduced test sensitivity. In families of unknown genotype, the presence of three or more (unilateral or bilateral) renal cysts is sufficient for establishing the diagnosis in individuals aged 15 to 39 y, two or more cysts in each kidney is sufficient for individuals aged 40 to 59 y, and four or more cysts in each kidney is required for individuals 60 yr. Conversely, fewer than two renal cysts in at-risk individuals aged 40 yr is sufficient to exclude the disease. These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed.

/pdf/unified-criteria-for-ultrasonographic-diagnosis-of-adpkd-3wlw9b02kv.pdf

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease.

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Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease.