No associations between rs2030712 and rs7456421 single nucleotide polymorphisms of HIPK2 gene and prevalence of chronic kidney disease. Results of a family-based study

Introduction: Different pathological processes can deteriorate kidney function and cause ireversible degeneration of its structure; however, an optimal way to inhibit or slow down progression of renal damage is unforunately not available. In the light of promissing data concerning homeodomain-interacting protein kinase 2 (HIPK2) upregulation in damaged kidneys animal model, and increased levels of this protein in patients with various kidney diseases, the influence of rs7456421 and rs 2030712 single nucleotide polimorphisms of HIPK2 gene on chronic kidney disease incidence and progression was studied. Material and methods: In 109 family ‘trios’, consisting of an affected child with CKD (48 females and 61 males, mean age 15.5 ±6.45 years) and both his/her parents, using Transmission Disequilibrium Test allele was used for the transfer of aforementioned SNPs from biological parents to their affected offspring. Results: No statistical significance of allele transfer was found, which means that there were no associations between rs7456421 and rs 2030712 SNPs of HIPK2 gene and the incidence of renal dysfunction. Multiple stepwise regression showed a history of chronic glomerulonephritis (OR=17.3), chronic interstitial nephritis without urinary tract defect (OR=4.4), and CT genotype of rs 2030712 SNP (OR=2.6) as determinant of a more rapid progression of renal dysfunction, in contrast to the protective action of body mass index (OR=0.86). Conclusions: On the basis of TDT results, the influence of rs7456421 and rs 2030712 SNPs of HIPK2 gene on prevalence of chronic kidney disease was not identified. Further studies are needed to ascertain the tight relationships of HIPK2 gene polymorphisms with CKD of different etiologies

Long-term health-related quality of life and psychological adjustment in children after haemolytic-uraemic syndrome

BACKGROUND: In children after haemolytic-uraemic syndrome (HUS), little is known about long-term health-related quality of life (HRQoL) and psychological adjustment as defined by behavioural problems, depressive symptoms and post-traumatic stress symptoms. METHODS: Sixty-two paediatric patients with a history of HUS were included in this study. Medical data of the acute HUS episode were retrieved retrospectively from hospital records. Data on the clinical course at study investigation were assessed by clinical examination and laboratory evaluation. HRQoL and psychological adjustment data were measured by standardised, parent- and self-reported questionnaires. RESULTS: Haemolytic-uraemic syndrome was diagnosed at a mean of 6.5 years before the initiation of the study (standard deviation 2.9, range 0.1-15.7) years. Among the preschool children, parents reported that their child was less lively and energetic (HRQoL emotional dimension), while no increased behavioural problems were reported. In the school-age children, self- and proxy-reported HRQoL was well within or even above the norms, while increased total behavioural problems were found. The school-age children reported no increased depression scores. Also none of the children met the criteria for full or partial HUS-associated posttraumatic stress disorder. CONCLUSIONS: Healthcare providers should be particularly alert to behavioural problems in school-age children with a history of HUS and to lower HRQoL in preschool children