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- Oborn, Helena, et al.
(författare)
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Health-related quality of life in children with chronic kidney disease, comparsions between parent and child reports
- 2017
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Ingår i: Pediatric nephrology (Berlin, West). - : Springer. - 0931-041X .- 1432-198X. ; 32:9, s. 1794-
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: We aimed to assess health related quality of life (HRQoL) in children with chronic kidney disease (CKD) or a kid-ney transplant (CKD-T) from the perspective of their parents (proxy ratings). Additionally, the parental life satisfaction was evaluated aswell as its possible associations with HRQoL of their children.Material and methods: Sixty parents to children with CKD stage 3–5 or CKD-T participated. HRQoL in children was assessed by parent proxy versions of the generic instruments Kidscreen-27 and Disabkids-37. Parents own life satisfaction was measured by self-reported LiSat-11 questionnaire.Results: In most areas parent proxy ratings were significantly lower thanratings by the children themselves. Female sex and older age were associated with lower HRQoL. Compared with proxy ratings by parents to children in the general population, proxy ratings of HRQoL in children with CKD and CKD-T were significantly lower in the domains Physical Well-being, Psychological Well-being, Social inclusion, Social exclusion, and in overall score. Compared with general population, parents in the study rated their own life satisfaction lower in the domains Life as a whole, Leisure and Contacts. Mothers’ life satisfaction were lower than fathers’in domains Life as a whole and Leisure.Conclusions: The agreement between parent and child reports of HRQoL was generally poor. Parent ratings of HRQoL in children with CKD seemed to correlate with parents own life satisfaction. The differences between parent and child ratings should be considered in clinical practice.
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| 2. |
- Zu, Shulu, et al.
(författare)
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Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux.
- 2009
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Ingår i: Pediatric nephrology (Berlin, Germany). - : Springer Science and Business Media LLC. - 1432-198X .- 0931-041X. ; 24:8, s. 1501-8
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Tidskriftsartikel (refereegranskat)abstract
- Familial clustering of vesico-ureteral reflux (VUR) suggests that genetic factors play an important role in the pathogenesis of this condition. The SLIT2 protein and its receptor, ROBO2, have key functions in the formation of the ureteric bud. Two recent studies have found that ROBO2 gene missense mutations are associated with VUR. In the study reported here, we investigated the genetic contribution of the SLIT2 and ROBO2 genes in non-syndromic familial VUR by mutation screening of 54 unrelated patients with primary VUR. Direct sequencing of all 26 exons and the exon-intron boundaries revealed six ROBO2 gene variants, two of which were new. Direct sequencing of all 37 exons and the exon-intron boundaries identified 20 SLIT2 gene variants, two of which were new. One variant, c.4253C > T, which was found in two families, leads to an amino acid substitution in a relatively well-conserved amino acid, p.Ala1418Val, which was predicted to cause an altered secondary structure but to have little impact on the three-dimensional structure. This missense variant did not segregate with VUR in these two families and was not found in 96 control subjects. We conclude that gene variants in ROBO2 and SLIT2 are rare causes of VUR in humans. Our results provide further evidence for the genetic heterogeneity of this disorder.
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