Abstract Kidney anomalies (KA) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examined rare coding variants in 248 KA trios and 1,742 singleton KA cases and compared them to 22,258 controls. Diagnostic and candidate diagnostic variants were detected in 14.1% of cases. We detected a significant enrichment of rare damaging variants in constrained genes expressed during kidney development and in genes associated with other developmental disorders, suggesting phenotype expansion. Consistent with these data, 18% of KA patients with diagnostic variants had neurodevelopmental or cardiac phenotypes. Extrarenal developmental phenotypes were associated with a higher burden of rare variants. Statistical analyses identified 40 novel candidate genes, 2 of which were confirmed as new KA genes: ARID3A and NR6A1. This study suggests that many yet-unidentified syndromes would be discoverable with larger cohorts and cross-phenotype analysis, leading to clarification of the genetic and phenotypic spectrum of developmental disorders.
Objective: Cardiovascular diseases are the most common cause of morbidity and mortality among patients with chronic kidney disease (CKD). The aim of the study was an assessment of the impact of hypertension and uraemia-related risk factors on left ventricular hypertrophy (LVH) in children with CKD. Design and method: The study was conducted in a group of 71 children (27 girls and 44 boys) with CKD stage 1 to 5. The patients’ mean age was 11 years and mean GFR was 32 ml/min/1.73 m2. Serum cystatin C, electrolytes, Hb, albumin, oxLDL, thrombomodulin levels and lipids profile were measured. Ambulatory blood pressure measurements were performed. Echocardiography examinations were carried out with a HP 5500 device. The 95th percentile of LV mass index relative to height age was used to define LVH. Results: LVH was detected in 34 out of 71 children. In the group of children with LVH, significantly higher values of BP were observed in 24-hour measurements: systolic (119 vs. 109 mm Hg; p = 0.002), diastolic BP (73 vs. 65 mm Hg; p = 0.009) and MAP (89 vs. 81 mm Hg, p = 0.004). These significantly higher values of blood pressure were observed both within a day: SBP (124 vs. 113 mmHg), DBP (77 vs. 69), MAP (93 vs. 85) and within a night: SBP (109 vs. 99), DBP (65 vs. 57) and MAP (81 vs. 73). Increased level of cholesterol (>5,2 mmol/l) was found in 25 children (35,7%), LDL > 3,4 mmol/l in 12 children, TGL > 1,7 mmol/l in 28, and a decreased HDL level was observed in 20 children. In children with LVH (N = 34) significantly higher BMI (18.6 vs. 16.7 kg/m2; p = 0.039), oxLDL (93.3 vs. 78.3 U/l; p = 0.03), thrombomodulin levels (12,94 vs. 8,91 ng/ml; p = 0,000) were found. Significantly lower albumin (41.5 vs. 45.4 g/l; p = 0.013), HDL (1.14 vs. 1.5 mmol/l; p = 0.001) and Ca levels (2.36 vs. 2.47 mmol/l; p = 0.03) characterised LVH group. Obesity and low HDL level were independent LVH risk factors in the multivariate analysis. Conclusions: Hypertension, a decreased HDL level, overhydration, oxidative stress and endothelial dysfunction have significant impact on the development of LVH in CKD children.
The aim of this study was to analyze psychosocial aspects of chronic kidney disease (CKD) in children treated with automated peritoneal dialysis (APD).The study assessed 41 children > 2 (range 2.1-18) years of age and their parents. Data concerning the illness and sociodemographic parameters were collected. Patients completed the Paediatric Quality of Life Inventory (PedsQL) and their parents the PedsQL-proxy version, General Health Questionnaire (GHQ-12), Berlin Social Support Scales (BSSS), and Caregiver's Burden Scale (CBS).Parents rated their children's overall health-related quality of life (QoL) as well as their physical and emotional functioning lower than the patients themselves. The majority of primary caregivers had a medium level of the total burden index in the CBS and higher values in the scales need for support and perceived available support than in the received support (BSSS). In the GHQ-12, 51.2% of primary caregivers had scores >2 points, which indicated the possible occurrence of abnormal mental functioning.Financial support for patients' families is necessary. Parents who provide primary care to children on PD require, above all, emotional support and assistance in self-fulfilment. More than half of them may have impaired mental function. There is the strong need to provide continuous psychological care for caregivers. Differences in perception of the children's activity in varied areas by the patients themselves and their caregivers may contribute to further problems within families.
Granulomatosis with polyangiitis (GPA) is a necrotising granulomatous vasculitis affecting the small and medium blood vessels in particular of airways and kidneys. The incidence of GPA in Europe is 25-150 per 1 million per year. This disease typically occurs in the 4th or 5th decades of life and in children it usually cause diagnostic and therapeutic difficulties. Subglottic stenosis and nasal deformity are frequently registered in this group of young patients.
1. Copelovitch L, Warady BA, Furth SL. Insights from the Chronic Kidney Disease in Children (CKiD) study. Clin J Am Soc Nephrol. 2011; 6(8): 2047–2053. CrossRef Google Scholar
<b><i>Background/Aims: </i></b>Chronic medical illness is a significant risk factor for the development of psychiatric disorders. The aims of the study were: to investigate the level of anxiety in children with chronic kidney disease (CKD) and to identify factors associated with the presence of that emotional problem. <b><i>Methods: </i></b>CKD children on hemodialysis (HD, n=22), peritoneal dialysis (PD, n=20,) and on conservative treatment (CT, n=95) were enrolled in the study. We used State-Trait Anxiety Inventory (STAI) for adolescents and STAI-C for children. Socio-demographic and physical factors were assessed. <b><i>Results: </i></b>There was a significantly higher level of anxiety-state among HD children (8-12 years) compared with other groups of participants of the same age and Polish population norms. The level of anxiety among adolescents (13-18 years), both anxiety-state and anxiety-trait, was significantly higher in the HD group compared with other groups, which did not differ among themselves. In the HD adolescents, there was a correlation between the anxiety-state and the duration of the disease as well as with the number of hospitalizations. PD adolescents in the mainstream education had higher levels of anxiety-state and anxiety-trait compared with home schooled patients. <b><i>Conclusions: </i></b>Even though children and adolescents with CKD are at risk of developing a variety of emotional disorders, the level of anxiety among the researched group, with the exception of HD patients, was not significantly different than the level of anxiety among healthy subjects. Adolescents on HD who present a high level of anxiety should undergo long-term psychological treatment.
