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Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development and progressive enlargement of cysts in the kidneys. The diagnosis of ADPKD is usually determined by criteria of renal ultrasound imaging of the development and number of cysts. However, in atypical cystic disease, for the recognition of ADPKD, DNA-based assays may be required., Materials and Methods: In the present study PCR amplified fragments of the PKD1 gene (covering exons 15 and 43- 44) from genomic DNA of 134 Lower Silesia patients were analyzed for mutations and polymorphisms. Among them, the clinical significance of different PKD1 mutations was investigated in 81 persons., Results: Eight new, previously undescribed, and 2 recurrent mutations were discovered. The presence of 3 known polymorphisms was confirmed. Seven of the 8 new discovered mutations were heterozygous., Discussion: The results of the present study demonstrated that the frequency of genetic abnormalities in the analyzed fragments of the PKD1 gene in the Lower Silesian population is smaller than previously reported. Moreover, we could not detect deletions and insertions, which are often present is these regions of the PKD1 gene, which may be due to the limited number of screened patients. We conclude that none of the discovered changes in the PKD1 gene had any effect on clinical phenotype of the disease.

Background: Post-transplant diabetes mellitus (PTDM) is a common metabolic complication in kidney allograft recipients, significantly contributing to the elevated cardiovascular morbidity after renal transplantation and increased risk of chronic transplant dysfunction. The aim of the present investigation was to evaluate the factors influencing PTDM development. Under particular consideration were the elements, existing before the transplantation, especially the modality of dialysis treatment significance, i.e. haemodialysis (HD) versus peritoneal dialysis (PD)., Methods: Three hundred and seventy-seven consecutive outpatients who underwent renal transplantation (RTx) in our institution between January 2003 and December 2005 were analysed. PTDM was diagnosed according to the current American Diabetic Association/World Health Organization criteria. Statistical inference was conducted by means of univariate methods (one factor versus PTDM) and multivariate methods in frames of generalized linear model., Results: In the study group, 72 patients (23.4%) developed PTDM after RTx (55 HD and 17 PD patients). PTDM incidence at 3, 6 and 12 months was 15.9%, 22.1% and 23.4%, respectively. The mean interval from transplantation to the onset of PTDM was 3.08 ± 2.73 months. In univariate analysis, the factors associated with the elevated risk of PTDM appearance were older recipient age, positive family history of diabetes, hypertensive nephropathy as end-stage renal disease cause, higher body mass index at transplantation, treatment by PD, and the graft from an older donor. In multivariate verification, statistical significance remained: older recipient age (P < 0.001), positive family history of diabetes (P = 0.002), and treatment by PD (P = 0.007)., Conclusions: Treatment by PD appears to be a possible novel factor, not yet reported, which may increase the risk of PTDM development.

This paper deals with the current genetic knowledge about autosomal dominant polycystic kidney disease (ADPKD). A short history of the mapping of the PKD1 and PKD2 genes, the types of mutations in these genes and methods of their detection are described. The main research trends involve mutations in PKD genes and the relation between the type of mutation and clinical features of the disease, the role of polycystins in the pathogenesis of ADPKD, and attempts to assess the influence of environmental factors on the progression of the disease. The second-hit model and the role of modifying genes in the pathogenesis of the disease are also discussed. The clinical manifestation of ADPKD, especially the risk factors of unfavorable progression and extrarenal manifestation of the disease, are presented, with particular emphasis on changes in the circulatory and nervous systems. Therapeutic implications as well as the relations between autosomal polycystic kidney disease and the recently described autosomal dominant polycystic liver disease are also discussed.