Katarzyna Kiliś-Pstrusińska

Perception of health-related quality of life in children with chronic kidney disease by the patients and their caregivers: Multicentre national study results

ObjectiveThe aim of the study was to analyse the health-related quality of life (HRQoL) in Polish children with chronic kidney disease (CKD) dependant on the CKD stage, treatment modality and selected social life elements in families of the patients. Furthermore, potential differences between self-report and parent/proxy reports and the factors influencing them were assessed.MethodsA total of 203 CKD children (on haemodialysis (HD), peritoneal dialysis (PD) and conservative treatment (CT)) and their 388 parent/proxies were enrolled into a cross-sectional national study. The demographic and social data were evaluated. We used the Paediatric Quality of Life Inventory 4.0 Generic Core Scales to assess the HRQoL in children.ResultsHealth-related quality of life scores for all CKD groups were significantly lower in all domains compared with population norms, the lowest one being in the HD group. In CT children, HRQoL did not depend on the CKD stage. Both parents assessed the HRQoL of their children differently depending on their involvement in the care. There are differences between the HRQoL scores of the children and their parents.ConclusionThe HRQoL in children with CKD is lower than in healthy children. This is already observed in the early stages of the disease. The disease itself influences the child’s mental state. Children on HD require special support on account of the lowest demonstrated overall HRQoL. Children’s lower rating of the quality of life observed by their parents may render the patients unmotivated and adversely affect their adjustment to life in later years. It may also create conflicts between the parents and the children.

Vitamins A, E and C as Non-Enzymatic Antioxidants and Their Relation to Lipid Peroxidation in Children with Chronic Renal Failure

Background: Increased lipid peroxidation (LP) and reduced enzymatic antioxidant defense have been observed in predialysis patients with advanced chronic renal failure (CRF) and in patients on maintenance hemodialysis (HD). To extend these observations, we evaluated the plasma, erythrocyte and dialysate levels of vitamins A and E and the plasma and dialysate levels of vitamin C as exogenous non-enzymatic antioxidants in children with CRF treated conservatively and on HD. The data obtained were related to LP monitored by erythrocyte malonyldialdehyde (E-MDA) and plasma organic hydroperoxide (OHP) concentrations. Patients: Forty-six predialysis children were enrolled in the study and divided into 2 groups: group I = moderate CRF (plasma creatinine <265.3 µmol/l), and group II = plasma creatinine ≧265.3 µmol/l. Group III consisted of 21 HD children. 27 age-matched healthy subjects served as a control group. Results: The plasma levels of vitamin A and vitamin C were significantly reduced in all CRF patients when compared to the controls, with the lowest values observed in children on maintenance HD (group III). Significant differences were also noted between the moderate CRF (group I) and HD (group III). Plasma levels of vitamin E were significantly decreased in moderate CRF (group I) and HD (group III) as compared to controls. In contrast, the erythrocyte vitamin A and vitamin E levels of predialysis children and HD patients were not different from the controls. The E-MDA and OHP concentrations in the 3 groups of CRF children were significantly higher than in healthy subjects. The concentration of plasma vitamin C was significantly inversely correlated with E-MDA, plasma OHP and creatinine in group I. In group II we found a significant correlation of plasma vitamin E levels with creatinine and E-MDA and a correlation of the plasma vitamin C concentration with E-MDA. Conclusion: CRF in children is associated with decreased concentrations of plasma antioxidant vitamins. This reduction is most expressed in children on maintenance HD and particularly concerns plasma vitamin C and erythrocyte vitamin E concentrations. The low levels of plasma vitamin A, E and C might result in reduced activity of the non-enzymatic antioxidant defense system and might be responsible for increased oxidative stress occurring in children with CRF.

Interleukin-18 in Urine and Serum of Children with Idiopathic Nephrotic Syndrome

Background/Aims: Interleukin (IL)-18, a member of the IL-1 cytokine superfamily, is recognized as an important regulator of immune responses. The aim of our study was to investigate the IL-18 levels in serum and urine from children with idiopathic nephrotic syndrome (INS) during relapse and remission, and to evaluate the role of IL-18 in this disease. Methods: 67 children with INS, aged 3–16 years, and 15 normal controls were included in the study. The patients were divided into two groups according to activity of the disease: I (n = 37) – INS in relapse, II (n = 30) – INS in remission. Serum and urinary IL-18 were determined by ELISA and in urine related to the urinary creatinine (Cr) concentration. Serum creatinine, protein, albumin and 24-hour proteinuria were measured in children with INS. Results: Urinary IL-18 concentration was significantly higher in group I (213.51 ± 162.15 pg/mg Cr) compared to group II (64.74 ± 10.95 pg/mg Cr) and to normal controls (37.03 ± 4.1 pg/mg Cr, p < 0.001). Serum IL-18 concentration was significantly higher in group I than in the controls (146.4 ± 30.2 and 113 ± 10 pg/ml, respectively; p < 0.05); the differences between either groups I and II or group II and controls were not significant. Urinary IL-18 correlated positively with serum IL-18 and with urinary protein excretion, but no correlations were found with other laboratory data. Conclusion: Increased serum and urine IL-18 levels were observed during relapse of INS. These findings indicate the association between the active phase of INS and the levels of IL-18 and can suggest the role of this cytokine in the INS development. The changes in urinary IL-18 excretion in the course of INS are connected with the disease activity.

Is Carnosinase 1 Gene (CNDP1) Polymorphism Associated with Chronic Kidney Disease Progression in Children and Young Adults? Results of a Family-based Study

BACKGROUND AND AIMS The aim of the study was to investigate the role of the D18S880 microsatellite polymorphism of carnosinase 1 gene (CNDP1), which encodes serum carnosinase, in the development and progression of chronic kidney disease (CKD) of nondiabetic etiology. METHODS We applied two different approaches. First, a family-based study was carried out comprising 109 patients with CKD caused by chronic glomerulonephritis (GN) or tubulointerstitial nephritis (IN) and their 218 healthy parents using the transmission/disequilibrium test. CNDP1 polymorphism and serum carnosinase activity were determined in all subjects. Serum carnosinase activity was also measured in 20 healthy controls. Second, we performed a case-control study to determine whether polymorphism in CNDP1 gene and other factors influence the progression of renal impairment. RESULTS Preferential transmission of the 5 allele of CNDP1 polymorphism from heterozygous parents to their offspring with CKD caused by GN was found. There was no association between that polymorphism and the loss of glomerular filtration rate. Serum carnosinase activity was significantly higher in CKD patients than in controls. CONCLUSION This study found no association between the CNDP1 polymorphism and increased risk for development of CKD caused by IN. However, the polymorphism can influence CKD caused by GN. The progression rate of CKD does not depend on this polymorphism. The increased serum carnosinase activity in the CKD patients may suggest its role in the pathomechanism of the disease.

Lymphoepithelioma-like thymic carcinoma in a 16-year-old boy with nephrotic syndrome—a case report

Nephrotic syndrome can occur as a consequence of, among others, malignancy. In this report we describe a 16-year-old boy with secondary nephrotic syndrome associated with lymphoepithelioma-like thymic carcinoma, an extremely rare subtype of thymic carcinoma with poor prognosis.

Is TCF7L2 variant associated with non-diabetic chronic kidney disease progression? Results of a family-based study.

INTRODUCTION It is assumed that genetic factors may play a significant role in CKD development. The aim of the study was to investigate the role of rs7903146 polymorphism in the TCF7L2 gene in development and progression of non-diabetic chronic kidney disease (CKD). MATERIAL/METHODS 109 children and young adults with CKD caused by primary glomerulopathy and tubulointerstitial nephropathy, stages 3-5, and their 218 biological parents with no renal dysfunction were included in the study. We tested the transmission of alleles of rs7903146 polymorphism in the TCF7L2 gene from heterozygous parents to offspring affected with CKD using the transmission/disequilibrium test. We also analysed whether rs7903146 polymorphism had any impact on the loss of glomerular filtration rate. RESULTS The rs7903146 polymorphism in TCF7L2 allele transmission from heterozygous parents to their affected children was not different from a random proportion expected for no association, in the whole group of subjects, and in the subgroups, depending on CKD aetiology. Lack of association between the analysed polymorphism and the loss of glomerular filtration rate was found in the total group of patients as well as in the subgroups, regarding the cause of CKD. CONCLUSIONS This study found no association between rs7903146 polymorphism in the TCF7L2 gene and the increased risk for development of CKD caused by primary glomerulopathy and analysed tubulointerstitial nephropathy. The progression rate of CKD of non-diabetic aetiology does not depend on this polymorphism.

Psychosocial aspects of children and families treated with hemodialysis

Introduction: The aim of this study was to analyze the selected psychosocial aspects of chronic kidney disease in children treated with hemodialysis (HD).

Chronic Kidney Disease-associated Pruritus in Children.

This study evaluated the frequency and severity of pruritus and dry skin in children with chronic kidney disease (CKD). A total of 103 children were included: 72 with CKD stage 3-5 (34 on dialysis and 38 treated conservatively without dialysis) and 31 as a reference group. Pruritus was assessed using the 4-item Itch Questionnaire and a visual analogue scale. Skin dryness was evaluated clinically, by non-invasive assessment of epidermis moisturizing and measurement of transepidermal water loss. Pruritus occurred in 20.8% of children with CKD, 18.4% on conservative treatment (receiving supportive care without dialysis) and 23.5% on dialysis. Xerosis was more common in children with pruritus (66.7%) than in those without pruritus (50.9%). Patients with pruritus had a significantly lower estimated glomerular filtration rate and a higher ratio of calcium × phosphate product (Ca × P). In conclusion, CKD-associated pruritus occurs not only in adults, but also in children, and it may already be present in the early stages of CKD.

A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review

The aim of the present study was to investigate genetic effects in the formation of congenital lower urinary tract obstruction (LUTO) comprising posterior urethral valves (PUV), urethral atresia, and urethras with variable degrees of stenosis.

Relationship between xerosis and pruritus in patients with chronic kidney disease

Suchość skóry i świąd należą do najczęstszych zmian skórnych u chorych na przewlekłą chorobę nerek. Zmiany skórne są częstsze i o większym nasileniu w grupie dializowanych, niezależnie od rodzaju dializy, w porównaniu do leczonych zachowawczo, ale mogą występować już we wcześniejszych stadiach przewlekłej choroby nerek i być bardzo dokuczliwe dla chorych. W pracy przedstawiono problem suchości skóry u chorych na przewlekłą chorobę nerek., jej charakter, przyczyny i powiązania ze świądem. Omówiono aktualne poglądy na temat patogenezy świądu u tych chorych, w przeszłości określanego mianem świądu mocznicowego, a obecnie świądu związanego z przewlekłą chorobą nerek. Opisano zasady postępowania w świądzie skóry, dostępne leczenie miejscowe i ogólne. Autorzy zwracają uwagę na konieczność leczenia zmian skórnych w celu zapobiegania ich progresji i poprawy jakości życia pacjentów.