Diversity of kidney care referral pathways in national child health systems of 48 European countries.

Background: Primary, secondary and tertiary healthcare services in Europe create complex networks covering pediatric subspecialties, sociology, economics and politics. Two surveys of the European Society for Paediatric Nephrology (ESPN) in 1998 and 2017 revealed substantial disparities of kidney care among European countries. The purpose of the third ESPN survey is to further identify national differences in the conceptualization and organization of European pediatric kidney health care pathways during and outside normal working hours.

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Background: Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of genetic testing poses implementation challenges. Consequently, we established a national nephrogenetics clinic to apply a multidisciplinary model.

[PEDIATRIC NEPHROLOGY - CLINICAL MEDICINE, GENETIC AND REGENERATIVE MEDICINE…TOGETHER].

This special issue of the "Harefuah" journal is dedicated to pediatric nephrology. Four review articles and nine original articles will present acute and chronic clinical cases in daily nephrology medicine in order to inform the medical community about the risk of development of kidney injury and of acute and chronic renal insufficiency in children. The scientific articles will expand the knowledge on recent and future trends in research in nephrogenetics and regenerative nephrology.

Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcome.

Objective: The aim of this study was to focus on fetuses diagnosed with severe hydronephrosis and correlate prenatal sonographic characteristics with postnatal outcome.

Methods: Cases presenting prenatally with severe hydronephrosis (anterior-posterior renal pelvic diameter >15 mm) were collected retrospectively over a period of 11 years and divided into 2 groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT).

Results: A total of 83 fetuses comprised the study group: 35 fetuses had isolated severe hydronephrosis and 48 had associated CAKUT.

Crossed ectopic kidney: prenatal diagnosis and postnatal follow-up.

Objective: The objective of this study is to investigate prenatal diagnosis and postnatal outcome of fetuses with crossed ectopic kidney.

Method: Cases referred for an empty renal fossa and diagnosed with crossed ectopic kidney confirmed postnatally were analyzed retrospectively over a period of 10 years. Prenatal diagnosis was established following the detection of one kidney in a normal position and a second ipsilateral kidney fed by abnormal blood vessels on Doppler flow RESULTS: Between 2005 and 2015, 185 fetuses were referred for an empty renal fossa.

Blood pressure in obese and overweight children and adolescents.

Background: The prevalence of obesity in children and adolescents has increased dramatically in the last few decades. Primary hypertension, a known secondary complication among obese adults, has been considered rare in children.

Objectives: To investigate the prevalence of hypertension and its relation to body mass index (BMI) in obese children aged 9-17 years in Israel.

Glutaric Aciduria type I and acute renal failure - Coincidence or causality?

Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the gene, and characterized by encephalopathic crises with neurological sequelae. We report herein a patient with GA-I who presented with severe acute renal failure requiring dialysis, following an acute diarrheal illness. Histopathological evaluation demonstrated acute tubular necrosis, and molecular diagnosis revealed the patient to be homozygous for a previously unreported mutation, p.

A human integrin-α3 mutation confers major renal developmental defects.

The development of the mammalian kidney is a highly complex process dependent upon the interplay of various cell types, secreted morphogens, and the extra-cellular matrix (ECM). Although integrins are the most important receptors for ECM proteins and are ubiquitously expressed during kidney development, mice lacking expression of integrin α3 (Itga3) do not demonstrate a reduced number of nephrons, but mostly a disorganized GBM (glomerular basement membrane) leading to proteinuria. Thus, ITGA3 is considered mostly a passive GBM stabilizer and not an active player in nephrogenesis.

Attention bias modification treatment augmenting effects on cognitive behavioral therapy in children with anxiety: randomized controlled trial.

Objective: Attention bias modification treatment (ABMT) is a promising novel treatment for anxiety disorders, but clinical trials have focused largely on stand-alone formats among adults. This randomized controlled trial examined the augmenting effects of threat-based ABMT on cognitive behavioral therapy (CBT) in clinically anxious youth.

Method: Sixty-three treatment-seeking children with anxiety disorder were randomly assigned to 1 of the following 3 treatment groups: ABMT + CBT; ABMT placebo + CBT; and CBT-alone.

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Abnormal differentiation of the renal stem/progenitor pool into kidney tissue can lead to renal hypodysplasia (RHD), but the underlying causes of RHD are not well understood. In this multicenter study, we identified 20 Israeli pedigrees with isolated familial, nonsyndromic RHD and screened for mutations in candidate genes involved in kidney development, including PAX2, HNF1B, EYA1, SIX1, SIX2, SALL1, GDNF, WNT4, and WT1. In addition to previously reported RHD-causing genes, we found that two affected brothers were heterozygous for a missense variant in the WNT4 gene.

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Background And Aims: Untreated renal tubular acidosis (RTA) can result in severe complications. We reviewed the clinical features of patients with mutations in two genes causing RTA and evaluated their developmental expression assuming that timing, symptom severity and complications may be related to its occurrence.

Methods: Clinical data from 16 patients with RTA due to mutations in either ATP6V1B1 or CAII were retrospectively reviewed.

The yield of early postnatal ultrasound scan in neonates with documented antenatal hydronephrosis.

We retrospectively assessed the yield of early postnatal ultrasound scans in neonates with documented antenatal hydronephrosis. We reviewed recording data of prenatal renal ultrasound for 178 newborn infants and the results of renal ultrasound performed during the first days of life. Of 119 infants with prenatal diagnosis of mild hydronephrosis (renal pelvic diameter <10 mm), 116 (97.

Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.

Dent's disease is an X-linked hereditary renal tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter, and 15% of patients have mutations in the OCRL1 gene (Dent 2). The aim of the study was to identify CLCN5 mutations in Jewish Israeli families with Dent's disease and to characterize the associated clinical syndromes.

Expression of SDF-1/CXCR4 in injured human kidneys.

The chemokine SDF-1alpha is involved in migration, survival, and development of multiple cells, most notably of hematopoietic stem cells (HSC) expressing its ligand CXCR4. Recently, we have shown engraftment of human HSC in the ischemically injured murine kidney, presumably mediated by SDF-1alpha. To further investigate a possible role of SDF-1alpha in the recruitment of CXCR4(+) cells in human renal disease of varying etiologies, we immunostained human biopsies of immunoglobulin (Ig)A nephropathy, minimal-change nephrotic syndrome, focal segmental glomerulosclerosis, membranoproliferative glomerulonephritis, chronic pyelonephritis, and acute tubular necrosis (ATN) for SDF-1alpha, CXCR4, and CD45, a pan-hematopoietic marker.

A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones and is caused by mutations in two genes: SLC3AI on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene.

Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family.

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.

Carbonic anhydrase II (CA2) deficiency syndrome is an autosomal recessive disorder leading to osteopetrosis, renal tubular acidosis, and cerebral calcifications. Affected members of an Arab family with the CA2 deficiency syndrome carried the "Egyptian mutation" in CA2, i.e.

Beta1- or beta2-blockers to improve hemodynamics following endotracheal adrenaline administration.

Background: The recommended dose for endotracheal adrenaline (0.02 mg/kg) causes a pronounced initial decrease in diastolic blood pressure which is detrimental at the initial phase of cardiopulmonary resuscitation. This effect was previously attributed to an early and preferential stimulation of the beta-adrenergic receptors causing vasodilatation unopposed by an alpha-adrenergic vasoconstriction.

Tracheal epinephrine or norepinephrine preceded by beta blockade in a dog model. Can beta blockade bestow any benefits?

Tracheal epinephrine (adrenaline) has been associated with two major deletorious side effects: increased heart rate (HR) and an initial decrease of blood pressure (BP). This prospective randomized animal study compared the haemodynamic responses to tracheally administered epinephrine or norepinephrine (nor adrenaline) alone versus each after pretreatment with propranolol for ameliorating those two untoward effects associated with epinephrine administration. Five anaesthetized mongrel dogs underwent 25 experiments of tracheal epinephrine or norepinephrine (0.

Red blood cell intracellular electrolyte concentration in children with acute hyponatremia.

Objective: To determine the relationship between intra- and extracellular red blood cell (RBC) sodium and potassium concentration in children with acute hyponatremia.

Design: Prospective case control study.

Setting: Pediatric intensive care unit of a tertiary care university-affiliated community hospital.

Should vasopressin replace adrenaline for endotracheal drug administration?

Objective: Arginine vasopressin was established recently as a drug of choice in the treatment of cardiac arrest and in retractable ventricular fibrillation; however, the hemodynamic effect of vasopressin following endotracheal drug administration has not been fully elucidated. We compared the effects of endotracheally administered vasopressin vs. adrenaline on hemodynamic variables in a canine model, and we investigated whether vasopressin produces the same deleterious immediate blood pressure decrease as did endotracheal adrenaline in the canine model.

The early development of the fetal kidney-an in utero sonographic evaluation between 13 and 22 weeks' gestation.

Objectives: To establish a nomogram for early fetal kidney development during early gestation.

Methods: The study is a prospective, cross-sectional evaluation of 275 male and female fetuses between 13 and 22 weeks in normal singleton pregnancies. Measurements of fetal kidney length were performed by high resolution transvaginal ultrasonography between 14 and 17 weeks' gestation, and by transabdominal ultrasonography beyond 18 weeks' gestation.

Tumor necrosis factor and clinical and metabolic courses after cardiac surgery in children.

Objective: This study was undertaken to determine the relationship between plasma tumor necrosis factor concentrations and hemodynamic and metabolic parameters during the postoperative clinical course in children undergoing cardiac surgery.

Methods: Tumor necrosis factor levels of 10 consecutive children undergoing surgery for repair of congenital heart defects were analyzed in blood samples drawn at predetermined time points during surgery and up to 24 hours thereafter. Clinical data were collected at these times for correlation to tumor necrosis factor levels.

Endotracheal epinephrine: a call for larger doses.

Unlabelled: Endotracheal administration of epinephrine 0.02 mg/kg (twice the IV dose) is recommended when IV access is unavailable during cardiopulmonary resuscitation. The standard IV dose has been considered too small for the endotracheal route by causing a detrimental decrease of arterial blood pressure (BP), presumably mediated by the beta-adrenergic receptor unopposed by alpha adrenergic vasoconstriction.

Common perinatal insults diminish cord blood RANTES.

We demonstrate that the cord blood RANTES concentrations are reduced in full-term newborns who were born from meconium-stained amniotic fluid as compared with full-term newborns born after normal delivery. Since RANTES inhibits immunodeficiency virus (HIV) entry into macrophages, thereby bestowing increased resistance to HIV (including protection in utero), we propose that common perinatal events might precipitate higher perinatal transmission of HIV.

Interleukin-8 secretion following cardiopulmonary bypass in children as a marker of early postoperative morbidity.

Background: Interleukin (IL)-8, an 8 kDa peptide, is the first chemoattractant identified as being specific for neutrophils. Its possible association with early postoperative morbidity following cardiopulmonary bypass (CPB) in infants and children is unknown. This prospective cohort study sought possible roles of IL-8 in the inflammatory response to CPB and investigated if changes in IL-8 levels and clinical course and outcome were related.