No abstract

WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700 WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension at diagnosis and exhibited more rapid disease progression. Focal segmental glomerulosclerosis was equally prevalent in both cohorts, but diffuse mesangial sclerosis was largely specific for WT1 disease and was present in 34% of cases. Sex reversal and/or urogenital abnormalities (52%), Wilms tumor (38%), and gonadoblastoma (5%) were almost exclusive to WT1 disease. Missense substitutions affecting DNA-binding residues were associated with diffuse mesangial sclerosis (74%), early steroid-resistant nephrotic syndrome onset, and rapid progression to ESRD. Truncating mutations conferred the highest Wilms tumor risk (78%) but typically late-onset steroid-resistant nephrotic syndrome. Intronic (KTS) mutations were most likely to present as isolated steroid-resistant nephrotic syndrome (37%) with a median onset at an age of 4.5 years, focal segmental glomerulosclerosis on biopsy, and slow progression (median ESRD age 13.6 years). Thus, there is a wide range of expressivity, solid genotype-phenotype associations, and a high risk and significance of extrarenal complications in WT1-associated nephropathy. We suggest that all children with steroid-resistant nephrotic syndrome undergo WT1 gene screening.

The aim of this prospective, multicenter study was to define the etiology and clinical features of acute kidney injury (AKI) in a pediatric patient cohort and to determine prognostic factors. Pediatric-modified RIFLE (pRIFLE) criteria were used to classify AKI. The patient cohort comprised 472 pediatric patients (264 males, 208 females), of whom 32.6% were newborns (median age 3 days, range 1-24 days), and 67.4% were children aged >1 month (median 2.99 years, range 1 month-18 years). The most common medical conditions were prematurity (42.2%) and congenital heart disease (CHD, 11.7%) in newborns, and malignancy (12.9%) and CHD (12.3%) in children aged >1 month. Hypoxic/ischemic injury and sepsis were the leading causes of AKI in both age groups. Dialysis was performed in 30.3% of newborns and 33.6% of children aged >1 month. Mortality was higher in the newborns (42.6 vs. 27.9%; p < 0.005). Stepwise multiple regression analysis revealed the major independent risk factors to be mechanical ventilation [relative risk (RR) 17.31, 95% confidence interval (95% CI) 4.88-61.42], hypervolemia (RR 12.90, 95% CI 1.97-84.37), CHD (RR 9.85, 95% CI 2.08-46.60), and metabolic acidosis (RR 7.64, 95% CI 2.90-20.15) in newborns and mechanical ventilation (RR 8.73, 95% CI 3.95-19.29), hypoxia (RR 5.35, 95% CI 2.26-12.67), and intrinsic AKI (RR 4.91, 95% CI 2.04-11.78) in children aged >1 month.

Adult-onset Still's disease (AOSD) has often been regarded as the adult spectrum of systemic juvenile idiopathic arthritis (sJIA). The present study aims to compare the clinical and laboratory features, the disease course and the response to treatment in patients having AOSD with those having sJIA. Retrospective review of all available data that were filled out by adult and paediatric rheumatologists from six centers using a standard data extraction form was performed. A total of 95 patients with AOSD and 25 patients with sJIA were recruited for the study. The frequency of fever, rash, myalgia, weight loss and sore throat was higher in patients with AOSD. The pattern of joint involvement differed slightly. Laboratory findings were similar in both groups, except that liver dysfunction and neutrophilia were more common among adults. A multiphasic pattern dominated the childhood cases, whereas the most frequent course was a chronic one in adults. Corticosteroids and methotrexate were the most commonly employed therapy; however, chloroquine was another popular therapy in the adult group. We showed a difference in the rate of clinical and laboratory features between patients with AOSD and those with sJIA. AOSD and sJIA may still be the same disease, and children may simply be reacting differently as the result of the first encounter of the putative antigens with the immune system.

In the present study, 386 patients with the diagnosis of poisoning admitted to the Pediatric Emergency Unit of Farabi Hospital of Medical Faculty of Karadeniz Technical University between January 2002 and December 2006 were retrospectively evaluated with respect to gender, age, cause of poisoning, type of substance used, route of exposure, reason for the intake, signs and symptoms, time of referral to the hospital, hospitalization period, and prognosis. The age group of most poisoning cases was <5 years of age and constituted 51% (n = 197) of all cases. The main toxic agent was drugs (70.2%), followed by foods (8.8%), rodenticides (7%), insecticides/pesticides (4.9%), and carbon monoxide (4.7%). In childhood poisonings, accidental drug poisoning was frequent in toddlers, whereas suicidal poisoning was frequent in adolescents. The suicidal poisoning rate was 23.8% among all poisoning patients, and 98.9% of these patients were adolescents. The suicidal poisoning rates for males and females were 30% and 70%, respectively. An increase in suicidal and inhalation poisonings was observed when compared with previous studies that have been conducted in the same region. The results of the present study suggest that poisonings still represents an important health problem that could be prevented by safe drug storage at home, as well as parental education on adolescence issues, particularly those regarding females.

Amitraz is used topically in the treatment of demodicosis and other ectoparasitic infestations. Amitraz poisoning in children has been reported in a few cases. We presented 43 cases with amitraz intoxication. Of the patients, 14 had skin exposure. We compared the skin to peroral exposure group considering intoxication findings and outcome. In the peroral exposure group symptoms and recovery were more severe than in the skin exposure group, but mortality was not seen in two groups.

No abstract

HSP is generally benign and self-limiting. Hypertension may be seen during the course of the disease without urinary findings. In this area, it seems to affect older children and there is a relatively lower incidence of renal manifestations.