Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Background: Autosomal recessive polycystic kidney disease (ARPKD) is genetically one of the least heterogeneous ciliopathies, resulting primarily from mutations of PKHD1. Nevertheless, 13-20% of patients diagnosed with ARPKD are found not to carry PKHD1 mutations by sequencing. Here, we assess whether PKHD1 copy number variations or second locus mutations explain these cases.

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

Background And Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.

Methods: A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22].

Voiding urosonography with second-generation contrast agent versus voiding cystourethrography.

Contrast-enhanced voiding urosonography (VUS) is becoming more widely used for the diagnosis of vesicoureteric reflux (VUR). The purpose of this study was to evaluate the sensitivity of VUS using a second-generation ultrasound (US) contrast agent and compare it with standard fluoroscopic voiding cystourethrography (VCUG). A total of 183 children with 366 kidney-ureter units (KUUs) underwent VUS and VCUG in the same session with the same catheterization.

[Application of enteral and "individual" parenteral nutrition therapies in pediatric patients].

In long-standing stress situation, in malabsorption syndromes we cannot provide the adequate protein and energy intake with enteral nutrition, so we often have to add complementary parenteral feeding. Using combined enteral and "individualised" parenteral nutrition the quality of life improves, the time of hospital stay decreases. The parenteral nutrition of neonates and infants implies a great challenge for health care supplier; there is no available "All-in-One" mixture infusion below 2 years of age.

[Vena portae obstruction as a cause of portal hypertension in a child with Turner syndrome].

Cardiovascular and renal malformations are well-known in Turner syndrome. However, gastrointestinal bleeding is less frequent. The possible etiologies of gastrointestinal bleeding in Turner syndrome are intestinal teleangiectasia, inflammatory bowel disease and portal hypertension.

[Malignant rhabdoid tumour in the liver].

The authors describe the case of a 6-months-old child with liver tumour. The newborn was healthy until 6 months of age. Prior to hospitalization meteorism and remarkably enlarged liver were observed.

[Urinary enzyme excretion in childhood uropathy].

Introduction: Renal tissue, and tubules are rich in enzymes but enzyme measurement in the urine as diagnostic parameters in renal diseases have not yet been generally accepted as routine procedures.

Aims: To study urinary enzyme excretion in childhood obstructive uropathy and compares the diagnostic efficiency of them.

Methods: Excretion of the enzymes alkaline phosphatase (ALP), gamma-glutamyltransferase (gamma-GT), N-acetyl-beta-D-glucosaminidase (NAG) and leucine aminopeptidase (LAP) has been investigated in urine of 34 children suffering from obstructive uropathy and in 31 healthy controls by photometric kinetic analysis using synthetic substrates.

[Infantile acute lobar nephritis].

Introduction: Acute lobar nephronia is a focal interstitial inflammation of the kidney healing well on conservative therapy.

Objective: Authors call attention on this rare pathological entity and emphasize the role of the imaging modalities in making the diagnosis. Short literature review is also given.

[Multicystic dysplastic kidney: natural history of the affected and the contralateral kidney compared to the normal and solitary kidney].

Introduction: Complications of multicystic dysplastic kidney are rare, but hypertension and malignant transformation represent real danger.

Patients/methods: In a 10-year period, 94 infants (60 boys, 34 girls) with multicystic dysplastic kidney were diagnosed. The data obtained from these patients were compared to 70 children with solitary kidney of which 36 were newborns.