Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is unclear.

Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients.

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant disorder characterized by high penetrance, widely variable expressivity and occurrence of specific skeletal changes such as tibial osteopathy (TO). We collected data on patients referred to the Italian Neurofibromatosis Study Group in order to compare clinical features between 49 NF1 patients with TO, and 98 age-matched NF1 patients without TO, and to determine whether the presence of TO is associated with a different risk of developing the typical NF1 complications. We assessed both groups for: age at diagnosis of NF1, gender distribution, family history, gender inheritance, presence of scoliosis, sphenoid wing osteopathy, other skeletal abnormalities, macrocrania, hydrocephalus, plexiform neurofibromas, tumors, optic pathway gliomas, T2H (high-signal intensity areas on T2 weighted brain MRI), epilepsy, headache, mental retardation, cardiovascular malformations, and Noonan phenotype.

Differing urinary urea excretion among children with idiopathic hypercalciuria and/or hyperuricosuria.

Objective: To estimate dietary protein intake in children with idiopathic hypercalciuria (HC) and/or hyperuricosuria (HU).

Patients And Methods: We compared the 24-h urinary excretion of urea, as a reflection of protein intake, in four age- and sex-matched groups, each comprising 56 consecutive children: (1) HC, (2) HU, (3) HC+HU and (4) control.

Results: Urinary urea excretion was significantly higher in HC, HU and HC+HU than in controls.

ROBO2 gene variants are associated with familial vesicoureteral reflux.

The SLIT2 receptor ROBO2 plays a key role in the formation of the ureteric bud, and its inactivation in mice leads to supernumerary ureteric bud development, lack of ureter remodeling, and improper insertion of the ureters into the bladder. Recently, two heterozygous ROBO2 missense mutations were identified in two families with primary vesicoureteral reflux occurring in combination with congenital anomalies of the kidney and urinary tract (VUR/CAKUT). This study investigated a possible causal role of ROBO2 gene variants in 95 unrelated patients with primary VUR (n = 78) or VUR/CAKUT.

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Vesicoureteral reflux (VUR) is the most common disease of the urinary tract in children. In order to identify gene(s) involved in this complex disorder, we performed a genome-wide search in a selected sample of 31 patients with primary VUR from eight families originating from southern Italy. Sixteen additional families with 41 patients were included in a second stage.

Long-term evolution of renal damage associated with unilateral vesicoureteral reflux.

Purpose: We determined the long-term evolution of renal damage associated with vesicoureteral reflux.

Materials And Methods: We retrospectively selected 74 consecutive children with unilateral primary vesicoureteral reflux, ipsilateral renal differential uptake less than 45% at dimercapto-succinic acid scintigraphy performed 4 to 6 months after urinary tract infection (60 patients) or shortly after diagnosis of vesicoureteral reflux investigated for prenatal hydronephrosis (14), and normal ultrasound and scintigraphic imaging of the contralateral nonrefluxing kidney. Average patient age at diagnosis was 3 years.

Atopy in childhood idiopathic nephrotic syndrome.

Aim: Aim of the study was to evaluate the immunoallergic pattern and their modulating serum cytokines in children with primary manifestation of nephrotic syndrome, in order to analyse the correlation with disease activity and the outcome of childhood NS.

Materials And Methods: We have evaluated 72 children: 58 steroid-sensitive and 14 steroid-resistant; 42 subjects were the healthy controls. In all were measured serum: T cell-subset, cytokines by Th-1, Th-2, total IgE levels and specific IgE antibodies.

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches.

Early cardiac morphologic and functional changes in neurofibromatosis type 1 hypertensives: an echocardiographic and tissue Doppler study.

Background: Hypertension is frequently associated with neurofibromatosis type 1 (NF1), a common inherited disease that limits life expectancy. No data are available on cardiac damage in NF1 patients with hypertension. We evaluated cardiac function in NF1 patients with hypertension diagnosed by 24-h ambulatory blood pressure monitoring (ABPM), compared with normal children.

Long-term outcome of vesicoureteral reflux associated chronic renal failure in children. Data from the ItalKid Project.

Purpose: The nephropathy associated with vesicoureteral reflux (VUR) is one of the leading causes of chronic renal failure (CRF) in children. We describe the clinical course of the disease based on information available in the ItalKid Project database, and analyze the predictive value of baseline renal function, age at VUR diagnosis and urinary protein excretion in relation to the risk of progressive renal failure.

Materials And Methods: As of December 31, 2001 the registry included a total of 343 patients (261 males) with a diagnosis of primary VUR, which was the leading single cause of CRF, accounting for 25.

Blood pressure and cardiovascular involvement in children with neurofibromatosis type1.

We evaluated blood pressure in a sample of patients with neurofibromatosis type 1 (NF1), using ambulatory blood pressure monitoring (ABPM), to determine whether ABPM, when compared with casual BP recordings, allowed the detection of a higher risk for hypertension. We also evaluated the correlation between BP and vascular abnormalities. We studied 69 NF1 patients (36 males and 33 females) with a mean age of 11+/-4 years, divided into group A, with 24-h mean systolic blood pressure (SBP) or diastolic blood pressure (DBP) <95th percentile, and group B, with mean SBP or DBP >95th percentile.

Risk factors for poor renal prognosis in children with hemolytic uremic syndrome.

Many factors have been proposed as predictors of poor renal prognosis in children with hemolytic uremic syndrome (HUS), but their role is still controversial. Our aim was to detect the most reliable early predictors of poor renal prognosis to promptly identify children at major risk of bad outcome who could eventually benefit from early specific treatments, such as plasmapheresis. Prognostic factors identifiable at onset of HUS were evaluated by survival analysis and a proportional hazard model.

Pelviureteral junction obstruction: correlation of renal cell apoptosis and differential renal function.

Purpose: We evaluated the relationship between renal biopsy changes and preoperative and postoperative renal scans in 29 male and 14 female infants with prenatal severe hydronephrosis and unilateral ureteropelvic junction obstruction. We also verified on immunohistochemical studies glomerular changes, degeneration of the epithelium of the proximal tubules, interstitial fibrosis and inflammation and apoptotic nuclei.

Materials And Methods: In the children, all with prenatal diagnosis of hydronephrosis, ureteropelvic junction obstruction was diagnosed with 99mtechnetium mercaptoacetyltriglycine renal scan performed in all patients at ages 4 to 6 weeks to establish baseline differential renal function.

Reflux nephropathy and hypertension: correlation with the progression of renal damage.

The aim of this study was to evaluate the relationship between blood pressure (BP), measured with ambulatory blood pressure monitoring (ABPM), and the progression of renal damage in 100 (70 females, 30 males) normotensive children with reflux nephropathy (RN). The patients, mean age of 13.5+/-5 years and almost 5 years of follow-up, were divided according to degree of RN into group A (I/II) and group B (III/IV).

Non-allelic heterogeneity in familial unilateral renal adysplasia.

We report three families with dominant unilateral renal adysplasia without vesico-ureteral reflux. No dysmorphia or anomalies were evident in the reproductive system. Ophthalmological examination excluded the presence of optic nerve coloboma or other ocular anomalies.

The heart in neurofibromatosis type 1: an echocardiographic study.

Background: Comprehensive data are unavailable for cardiac abnormalities in patients with neurofibromatosis type 1 (NF1). The goal of this study was to evaluate the prevalence of cardiovascular abnormalities with echocardiography with color Doppler scan (ECHO) in a large, consecutive series of patients with NF1.

Methods: We studied 48 patients with NF1 (mean age, 10 years).

T-lymphocyte populations and cytokines in childhood nephrotic syndrome.

We investigated lymphocyte subpopulations and the production of cytokines by T helper cell subtype 1 (Th1), Th2, and monocytes/macrophages (tumor necrosis factor-alpha [TNF-alpha]) in peripheral-blood mononuclear cells of 18 children with steroid-sensitive (SS) nephrotic syndrome (NS) and 10 children with steroid-resistant (SR) NS. Mean age was 10.9 +/- 5.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele.