Purpose: Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing for optimized medical management and therapeutic choices.
Methods: Clinical exome sequencing (CES) was performed on a cohort of 191 pediatric patients from a single institution, followed by Sanger sequencing to confirm identified variants and for family segregation studies.
Background And Objectives: Children with multi-drug resistant idiopathic nephrotic syndrome (MDR-INS) usually progress to end-stage kidney disease with a consistent risk of disease recurrence after transplantation. New therapeutic options are needed for these patients. Mesenchymal stromal cells (MSCs) are multipotential non-hematopoietic cells with several immunomodulatory properties and growing clinical applications.
View Article and Find Full Text PDFBackground: Unavailability of the iliac-caval system due to thrombosis or aberrant anatomy may preclude kidney transplantation (KT) in small infants, exposing them to the complications of long-term dialysis. A tailored approach may enable KT also in these difficult patients.
Methods: We report the cases of 2 pediatric patients with a history of long-term hemodialysis, a previously failed KT, pending exhaustion of vascular accesses for dialysis, and unsuitability of the iliac-caval axis as a site for KT.
Background: Few reports have addressed the change in renal replacement therapy (RRT) management in the Intensive care Units (ICUs) over the years in western countries. This study aims to assess the trend of dialytic practice in a 4.5-million population-based study of the northwest of Italy.
View Article and Find Full Text PDFCorticosteroid-related toxicity in children with steroid-sensitive nephrotic syndrome is primarily related to the cumulative dose of prednisone. To optimize treatment of relapses, we conducted the PROPINE study, a multicentric, open-label, randomized, superiority trial. Seventy-eight relapsing children aged 3-17 years who had not received steroid-sparing medications during the previous 12 months were randomized to receive, from day five after remission, either 18 doses of 40 mg/m of prednisone on alternate days (short arm), or the same cumulative dose tapered over double the time (long arm).
View Article and Find Full Text PDFCapillary leak syndrome is a critical condition occasionally occurring posttransplant and is characterized by acute endothelial hyperpermeability leading to systemic protein-rich fluid extravasation and consequent hypovolemia, hypoperfusion, and acute kidney injury. Treatment is merely supportive and is based on osmotic drugs, diuretics, continuous renal replacement therapy, and surgical drainage. However, removal of the underlying inflammatory cause is mandatory to achieve stable resolution.
View Article and Find Full Text PDFBackground: High volume haemodiafiltration (HDF) is associated with better survival than conventional haemodialysis (HD) in adults, but data concerning its use in children are lacking. The aim of this study was to assess the prevalence of paediatric HDF use and its associated factors in recent years in Italy.
Methods: We retrospectively reviewed the files of patients from the Italian Pediatric Dialysis Registry's database who were registered between January 1, 2004 and December 31, 2016 and treated with extracorporeal dialysis for at least 6 months, looking in particular at modality and its associated factors.
Unlabelled: Data concerning outcomes of children on hemodialysis (HD) and peritoneal dialysis (PD) are scarce and frequently derived from single-center experiences. We sought to compare survival and transplantation rates in a large cohort of PD and HD patients. We extracted all patients initiating dialysis under 16 years of age between 2004 and 2013 from the Italian Registry of Pediatric Chronic Dialysis.
View Article and Find Full Text PDFBackground: Chronic haemodialysis (HD) in small children has not been adequately investigated.
Methods: This was a retrospective investigation of the use of chronic HD in 21 children aged <2 years (n = 12 aged <1 year) who were registered in the Italian Pediatric Dialysis Registry. Data collected over a period of >10 years were analysed.
The Piedmont Group of Clinical Nephrology compared the activity of 15 nephrology centers in Piedmont and Aosta Valley as regards bone protection in patients on corticosteroids therapy. Fracture prevalence shows great variability: in 4/15 centers (27%) no fractures were found, in 6/15 centers (40%) fractures were present in 1-4% of cases, in 1 center in 18% of patients. Clinical risk of fracture was based on sex, age and postmenopausal status in 11/14 of the centers (79%), history of fractures and bone disease in 4/14 centers (27%), smoking and alcohol consumption in 3 and 2 centers respectively, glucocorticoid dose and duration in 4, in children bone age and calcium phosphorus status.
View Article and Find Full Text PDFDespite improvements in overall prognosis, in the quality of life and in growth targets, children on peritoneal dialysis are subject to a high risk of growth retardation, especially if the disease begins in the early stages of life. In these patients, spontaneous feeding often does not provide an adequate intake of nutrients and early start of enteral nutrition needs to be considered. An intensive nutritional approach should always be established early and can be technically achieved using either a naso-gastric tube or a gastrostomy.
View Article and Find Full Text PDFBackground: Paediatric literature about encapsulating peritoneal sclerosis (EPS) is limited and comes primarily from anecdotic experiences. In this study, we described the incidence and characteristics of EPS in a large paediatric chronic peritoneal dialysis (CPD) patient population.
Methods: We reviewed files of patients starting CPD at <16 years of age, recorded from January 1986 to December 2011 by the Italian Registry of Pediatric Chronic Dialysis (n = 712).
Background: Some difficult cases of idiopathic nephrotic syndrome (NS) have been treated with a HIV protease inhibitor provided with proteasome-inhibiting activity. The objective of this study was to limit nuclear factor κB (NF-κB) activation which is up-regulated in these patients, aiming at decreasing proteinuria and prednisone need.
Methods: Ten cases with long-lasting (up to 15 years) history of NS with steroid dependence (six cases, of which three with secondary steroid resistance) or resistance to steroids (four cases) unsuccessfully treated with multiple immunosuppressive drugs, accepted a treatment with the protease inhibitor saquinavir.
Background: Although chronic peritoneal dialysis (CPD) is considered the replacement therapy of choice for infants with end-stage renal failure, many questions persist about treatment risks and outcomes.
Methods: We present data on 84 infants who started CPD at <1 year of age; these patients represent 12% of the total population of the Italian Registry of Paediatric Chronic Dialysis. We analysed patient records from all children consecutively treated with CPD between 1995 and 2007 in Italy.
Background: Bone alterations in young renal transplant recipients were investigated in several studies with conflicting results. Quantitative ultrasound of the phalanges is a recently developed noninvasive procedure to assess skeletal status.
Study Design: Cross-sectional study at a single transplant center with values compared with previously studied healthy controls.
Background: Factors predictive of renal outcome were investigated in 219 cases of biopsy-proven Henoch-Schönlein purpura nephritis (HSPN); 83 children and 136 adults enrolled in a national study were followed up for up to 27 years (median, 4.5 years).
Methods: The criterion for defining disease progression was time elapsed until doubling of baseline creatinine level and until dialysis therapy.
Objective: To analyze data on 503 chronic peritoneal dialysis (CPD) catheters implanted between 1986 and 2000 in pediatric patients enrolled in the Italian Registry of Pediatric Chronic Peritoneal Dialysis (the Registry), comparing three different time periods: 1986-1990, 1991-1995, and 1996-2000.
Design: Retrospective study.
Setting: 23 dialysis centers participating in the Registry.
In this study we compared patient and technique survival of 163 new hemodialysis (HD) patients (age 11.4+/-3.1 years) and 295 peritoneal dialysis patients (7.
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