Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology.

In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), with controversial results, and a worldwide consensus on management and follow-up is lacking. In this consensus statement, the Italian Society of Pediatric Nephrology summarizes the current knowledge on CSK and presents recommendations for its management, including diagnostic approach, nutritional and lifestyle habits, and follow-up. We recommend that any antenatal suspicion/diagnosis of CSK be confirmed by neonatal ultrasound (US), avoiding the routine use of further imaging if no other anomalies of kidney/urinary tract are detected.

Born with a solitary kidney: at risk of hypertension.

Background: Subjects with a congenital solitary kidney (CSK) are believed to be at risk of hypertension due to their low number of nephrons. However, as CSK is a congenital abnormality of the kidney or urinary tract (CAKUT), subtle dysplastic changes contributing to hypertension cannot be excluded.

Methods: We retrospectively compared office blood pressure (OBP) and ambulatory blood pressure monitoring (ABPM) between two groups of children with CAKUT, aged 6-18 years: Group A with a CSK and Group B with two kidneys.

Congenital Solitary Kidney in Children: Size Matters.

Purpose: We assessed renal function outcome in children with congenital solitary kidney and evaluated prognostic risk factors.

Materials And Methods: We retrospectively studied the clinical charts of 210 children presenting with congenital solitary kidney at 2 pediatric nephrology and 5 pediatric units between January 2009 and October 2012. Children 0 to 18 years old with a congenital solitary kidney confirmed by scintigraphy were enrolled.

Best practice guidelines for idiopathic nephrotic syndrome: recommendations versus reality.

Background: The optimal therapeutic regimen for managing childhood idiopathic nephrotic syndrome (INS) is still under debate. We have evaluated the choice of steroid regimen and of symptomatic treatment adopted by pediatricians and pediatric nephrologists in a large number of centers as the first step towards establishing a shared protocol

Methods: This was a multicenter, retrospective study. A total of 231 children (132 admitted to pediatric units) aged 6 months to <15 years who presented with onset of nephrotic syndrome to 54 pediatric units and six pediatric nephrology units in Italy between 2007 and 2009 were eligible for entry into the study.

Copy-number disorders are a common cause of congenital kidney malformations.

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)).

Long-term clinical consequences of urinary tract infections during childhood: a review.

Unlabelled: Kidney scarring related to urinary tract infection in childhood has been considered the cause of serious long-term clinical consequences. This assumption is now debated, as the advent of routine antenatal ultrasound in the 1980s has shown that a consistent part of the changes previously attributed to postinfectious scarring is mainly due to congenital malformations. With the aim of determining what is presently known on the long-term clinical consequences of urinary tract infections (UTIs) in childhood, we performed a review of the literature on the relation between UTIs and blood pressure, renal function, growth and pregnancy-related complications.

Febrile urinary tract infections in young children: recommendations for the diagnosis, treatment and follow-up.

Unlabelled: We report the recommendations for the diagnosis, treatment, imaging evaluation and use of antibiotic prophylaxis in children with the first febrile urinary tract infection, aged 2 months to 3 years. They were prepared by a working group of the Italian Society of Pediatric Nephrology after careful review of the available literature and a consensus decision, when clear evidence was not available.

Conclusion: These recommendations are endorsed by the Italian Society of Pediatric Nephrology.

Nephrocalcinosis in children: a retrospective multi-centre study.

Aim: To review the data of children with NC and to analyse aetiology, clinical manifestations, growth and renal function at presentation; to relate growth and renal function to changes in NC in patients with a follow-up of at least 12 months.

Methods: Data of 41 children from four institutions were gathered retrospectively.

Results: Presenting symptoms were failure to thrive in the first year of life (41%), urinary tract infections, bladder voiding dysfunction or abdominal pain (17%) and psychomotor delay (10%).

A statistical model for translocation of structured polypeptide chains through nanopores.

The translocation process of a globular protein (ubiquitin) across a cylindrical nanopore is studied via molecular dynamics simulations. The ubiquitin is described by a native-centric model on a Calpha carbon backbone to investigate the influence of protein-like structural properties on the translocation mechanism. A thermodynamical and kinetic characterization of the process is obtained by studying the statistics of blockage times, the mobility, and the translocation probability as a function of the pulling force F acting in the pore.

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients.

Prescription of drugs blocking the renin-angiotensin system in Italian children.

Little is known about the prescription pattern of antihypertensive drugs for children with impaired kidney function. We have therefore documented the use of antihypertensive drugs in this patient group by evaluating the Italian pediatric population-based registry of patients with chronic kidney disease on conservative treatment (ItalKid) from 1995 to 2003. In 1995, prescriptions written for antihypertensive drugs for use by children were approximately equally divided among drugs blocking the renin-angiotensin system and calcium channel blockers (38 vs.

Idiopathic hypercalciuria in infants with renal stones.

In children older than 2 years, hypercalciuria is the most common metabolic cause of renal stones. In infants, its prevalence is not well established. Since 1990, we observed five infants in whom renal stones or microcalculi were diagnosed between the age of 5 and 19 months.

Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.

Background: Dent's disease is an inherited tubulopathy caused by CLCN5 gene mutations. While a typical phenotype characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure in various combinations often enables a clinical diagnosis, less severe sub-clinical cases may go under-diagnosed.

Methods: By single-strand conformation polymorphism analysis and direct sequencing, we screened 40 male patients from 40 unrelated families for CLCN5 gene mutations.

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384).

Hypercalciuria in osteogenesis imperfecta type I.

Background: In Osteogenesis Imperfecta severity of disease and reduced physical activity have been considered the main factors contributing to hypercalciuria; however, its pathogenesis in Osteogenesis Imperfecta Type I, in which mobility is normal, is still unclear.

Patient, Methods And Results: We describe a patient with Osteogenesis Imperfecta Type I and hypercalciuria, in whom measurement of calcium intake, plasma 1 - 25(OH) (2) Vitamin D, fasting calciuria and tubular proteinuria led us to exclude an absorptive or renal component in the pathogenesis of hypercalciuria.

Conclusions: We believe that hypercalciuria is determined by bone disease in Osteogenesis Imperfecta Type I.

Middle molecule and small protein removal in children on peritoneal dialysis.

Background: Dialysis efficiency has a great influence on the outcome of patients. Few data are available on the removal of solutes with molecular weights higher than urea and creatinine. The aim of our study was to assess the transport and the removal of substances with molecular weights up to 15 kD and to evaluate the contribution of residual renal function in peritoneal dialysis (PD) children.

Metabolic consequences of sigmoidocystoplasty in children.

Recent reports have shown that metabolic acidosis is a possible complication in patients who undergo augmentation enterocystoplasty. We studied 30 patients with neurogenic bladder who underwent sigmoidocystoplasty. Follow-up ranged from 1 to 10 years; all the patients showed normal renal function.

"Neonatal variant" of Bartter syndrome presenting with acidosis.

An infant is reported with the "neonatal variant" of Bartter syndrome, presenting at 5 weeks of age with metabolic acidosis associated with a life-threatening water and electrolyte depletion. Alkalosis was first shown after 2 weeks of vigorous fluid, sodium, and potassium substitution. We suggest that the extreme fluid and electrolyte losses associated with the "neonatal form" of Bartter syndrome could lead to acidosis more often than previously suspected, and may cause underdiagnosis of a possibly fatal condition.