Zero-Fluoroscopy Catheter Ablation of Supraventricular Tachycardias in the Pediatric Population.

Catheter ablation (CA) of supraventricular tachycardias (SVTs) is conventionally performed with the aid of X-ray fluoroscopy. Usage of a three-dimensional (3D) electro-anatomical mapping (EAM) system and intracardiac echocardiography (ICE) enables zero-fluoroscopy ablation, eliminating the harmful effects of radiation. We retrospectively analyzed the feasibility, effectiveness and safety of zero-fluoroscopy radiofrequency and cryoablation of various types of SVTs in pediatric patients.

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.

Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant - c.

Systolic and diastolic left ventricular function in children with primary hypertension: a systematic review and meta-analysis.

Objective: Evaluation of left ventricular function provides early evidence of target-organ damage in children with primary hypertension. We performed a systematic review and meta-analysis of left ventricular systolic and diastolic function in children and adolescents with primary hypertension.

Methods: Literature search was performed in PubMed database and out of 718 articles (published between 2000 and 2021) 22 studies providing comparison of left ventricular function parameters between children with primary hypertension and normotensive controls were selected.

Knowledge gaps and future directions in cognitive functions in children and adolescents with primary arterial hypertension: A systematic review.

Arterial hypertension (AH) among adults is known to be associated with worse cognitive outcomes. Similarly, children and adolescents with AH could be expected to underperform during neuropsychological evaluations when compared with healthy peers. Our aims were to review the existing literature on cognitive functioning among children and adolescents with primary AH and to identify what additional evidence may be needed to substantiate the impact of hypertension on poor cognitive outcomes in this population.

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood.

Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD.

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD.

Clinical characteristics of Slovenian pediatric patients with autosomal recessive polycystic kidney disease.

Aims: Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease. We reviewed the clinical characteristics, management, and outcomes in Slovenian pediatric patients with ARPKD.

Materials And Methods: All patients with ARPKD who were treated at the Pediatric Nephrology Department of the University Children's Hospital in Ljubljana between 1980 and 2020 were included in the study.

Aetiology, course and treatment of acute tubulointerstitial nephritis in paediatric patients: a cross-sectional web-based survey.

Background: Acute tubulointerstitial nephritis (TIN) is a significant cause of acute renal failure in paediatric and adult patients. There are no large paediatric series focusing on the aetiology, treatment and courses of acute TIN.

Patients, Design And Setting: We collected retrospective clinical data from paediatric patients with acute biopsy-proven TIN by means of an online survey.

A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant.

Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associated with nephrotic syndrome type 1, also known as Finnish-type CNS, which is inherited in an autosomal recessive manner. Symptomatic treatment with intravenous albumins, vitamins, minerals, nutritional, and hormonal supplementation and treatment of complications are mandatory.

Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.

Background: A novel data-driven cluster analysis identified distinct pathogenic patterns in C3-glomerulopathies and immune complex-mediated membranoproliferative glomerulonephritis. Our aim was to replicate these observations in an independent cohort and elucidate disease pathophysiology with detailed analysis of functional complement markers.

Methods: A total of 92 patients with clinical, histological, complement and genetic data were involved in the study, and hierarchical cluster analysis was done by Ward method, where four clusters were generated.

C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy.

Background: Acquired or genetic abnormalities of the complement alternative pathway are the primary cause of C3glomerulopathy(C3G) but may occur in immune-complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) as well. Less is known about the presence and role of C4nephritic factor(C4NeF) which may stabilize the classical pathway C3-convertase. Our aim was to examine the presence of C4NeF and its connection with clinical features and with other pathogenic factors.

Is renal scintigraphy really a necessity in the routine diagnosis of congenital solitary kidney?

Background: For a definitive diagnosis of congenital solitary kidney, renal scintigraphy is suggested as being the gold standard of ruling out ectopic functioning renal tissue, possibly missed by ultrasound. The aim of our study was to test ultrasonography precision in comparison with renal scintigraphy on a larger cohort of congenital solitary kidneys.

Methods: We performed a retrospective unicenter study of children with congenital solitary kidney with no contralateral tissue, who were treated in the period from 1980 to 2017.

Acute rheumatic fever outbreak in southern central European country.

Unlabelled: A decline in the incidence of acute rheumatic fever (ARF) in developed countries over the past century can be attributed to the improved public hygiene and to widespread use of antibiotics. ARF seemed to be a rare disease in southern central European country, Slovenia, up to 2010 when we noticed an increase in the number of patients with ARF. In order to assess the current incidence of ARF, we performed a retrospective study of all patients with ARF treated at the University Children's Hospital Ljubljana from January 2008 until the end of December 2014.

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.

Background: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies.

Methods: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18).

Fate of Central Venous Catheters Used for Acute Extracorporeal Treatment in Critically Ill Pediatric Patients: A Single Center Experience.

Renal replacement treatment (RRT) is required in severe acute kidney injury, and a functioning central venous catheter (CVC) is crucial. Twenty-eight children younger than 16 years have been treated at the University Medical Centre Ljubljana between 2003 and 2012 with either acute hemodialysis (HD) and/or plasma exchange (PE), and were included in our study. The age of the patients ranged from 2 days to 14.

Chronic Hemodialysis in Small Children.

When peritoneal dialysis is inapplicable, chronic hemodialysis (HD) becomes the only available treatment option in small children. Due to small patient size, central venous catheters (CVC) are mainly used for vascular access. Over the past 4 years, four children weighing less than 15 kg received chronic HD in our unit.

IgA-dominant acute poststreptococcal glomerulonephritis with concomitant rheumatic fever successfully treated with steroids: a case report.

There are only a few reports of the co-occurrence of acute poststreptococcal glomerulonephritis (APGN) and acute rheumatic fever. We report an unusual case of a 3-year-old boy with nephrotic syndrome and acute renal failure with the transitional need for peritoneal dialysis, biopsy-proven atypical IgA-dominant APGN, and concomitant acute rheumatic fever, successfully treated by steroids. Aggressive treatment with pulses of methylprednisolone proved to be successful and we recommend its use in this type of cases.

Detection of dialysis access induced limb ischemia by infrared thermography in children.

High arteriovenous fistula (AV fistula) blood flow may impair distal limb perfusion and cause irreversible ischemic damage. Since tissue temperature reflects blood perfusion, we tried to assess distal blood flow using an infrared camera. We examined all 12 patients with an AV fistula in our dialysis unit.

Vascular access in children on chronic hemodialysis: a Slovenian experience.

The aim of our study was to report our experience with arteriovenous fistulas (AVFs) and non-cuffed central venous catheters (CVCs) in children and adolescents with end-stage renal disease (ESRD) on hemodialysis (HD). The children with ESRD (18 years or younger) who were hemodialyzed at the Center of Dialysis and Transplantation, Children's Hospital, Ljubljana, in the period between December 1998 and December 2010 were included in our retrospective study. We recorded the data considering the CVCs and AVFs used for HD.

Partial remission of resistant nephrotic syndrome after oral galactose therapy.

Focal segmental glomerulosclerosis is sometimes associated with a circulating permeability factor. It was proposed that this factor interacts with the sugars of the glycocalyx, and its high affinity for galactose was shown on the basis of chromatographic studies. Galactose inactivates it and seems to lead to its clearance from plasma.

Intima media thickness and endothelial function in chronic hemodialysis patients.

The purpose of our study was to evaluate the intima-media thickness (IMT) of the carotid and brachial arteries, flow-mediated dilatation (FMD), and nitroglycerin-mediated dilatation (NMD) in diabetic and non-diabetic hemodialysis patients. We also examined the effects of traditional and other risk factors on carotid and brachial IMT, FMD and NMD in all hemodialysis patients. Fifty-eight adult hemodialysis patients, 14 of whom had diabetes, were studied.