Diagnosis of acute intermittent porphyria in a renal transplant patient: A case report.

Background: Acute intermittent porphyria (AIP) is an inherited disorder of porphyrin metabolism with a worldwide distribution and a prevalence ranging from 1 to 9 per million population. AIP is caused by an autosomal dominant-inherited mutation of low penetrance resulting in a deficiency of porphobilinogen deaminase (PBGD) activity. Acute attacks are provoked by stressors such as certain medications, alcohol, and infection.

Elongation of the styloid processes in kidney-transplanted patients: The role of ectopic calcification as possible cause of Eagle syndrome.

: To investigate the relationship between the presence of ectopic calcification in the elongation of the styloid process (SP) and its possible clinical manifestation (Eagle syndrome) in a population of kidney-transplant patients previously treated with hemodialysis.: Digital orthopantomography of 92 kidney-transplanted patients and 68 control subjects were analyzed to measure the length of SPs. Calcium, phosphate, alkaline phosphatase, and parathyroid hormone (PTH) blood levels were also available for comparison.

Dental Care for Patients with End-Stage Renal Disease and Undergoing Hemodialysis.

Chronic renal failure is a progressive disease characterized by a gradual destruction of nephrons and a consequent reduction of kidney function. End-stage renal disease (ESRD) necessitates renal replacement therapy as peritoneal dialysis, hemodialysis, or transplantation. Patients affected by ESRD or in hemodialysis are at risk for developing a number of comorbidities including hypertension, anemia, risk of bleeding, susceptibility to infection, medication side effects, and oral manifestations associated with the disease itself and with hemodialysis treatment.

A nanoporous surface is essential for glomerular podocyte differentiation in three-dimensional culture.

Although it is well recognized that cell-matrix interactions are based on both molecular and geometrical characteristics, the relationship between specific cell types and the three-dimensional morphology of the surface to which they are attached is poorly understood. This is particularly true for glomerular podocytes - the gatekeepers of glomerular filtration - which completely enwrap the glomerular basement membrane with their primary and secondary ramifications. Nanotechnologies produce biocompatible materials which offer the possibility to build substrates which differ only by topology in order to mimic the spatial organization of diverse basement membranes.

Warfarin-related nephropathy: possible role for the warfarin pharmacogenetic profile.

Warfarin-related nephropathy (WRN) is a renal complication of warfarin treatment associated with over-anticoagulation. We describe a case of a 73-year-old man affected by chronic kidney disease, essential hypertension and atrial fibrillation treated with warfarin. The patient presented a rapid course of kidney failure after many episodes of over-anticoagulation, and renal biopsy demonstrated WRN.

Small molecule membrane transporters in the mammalian podocyte: a pathogenic and therapeutic target.

The intriguingly complex glomerular podocyte has been a recent object of intense study. Researchers have sought to understand its role in the pathogenesis of common proteinuric diseases such as minimal change disease and focal segmental glomerular sclerosis. In particular, considerable effort has been directed towards the anatomic and functional barrier to macromolecular filtration provided by the secondary foot processes, but little attention has been paid to the potential of podocytes to handle plasma proteins beyond the specialization of the slit diaphragm.

Percutaneous cryoablation of a renal cell carcinoma in a transplanted kidney.

In patients who undergo renal transplantation urinary tract tumors have an incidence of approximately 1.5%-3.3%.

Podocyte developmental defects caused by adriamycin in zebrafish embryos and larvae: a novel model of glomerular damage.

The zebrafish pronephros is gaining popularity in the nephrology community, because embryos are easy to cultivate in multiwell plates, allowing large number of experiments to be conducted in an in vivo model. In a few days, glomeruli reach complete development, with a structure that is similar to that of the mammalian counterpart, showing a fenestrated endothelium and a basement membrane covered by the multiple ramifications of mature podocytes. As a further advantage, zebrafish embryos are permeable to low molecular compounds, and this explains their extensive use in drug efficacy and toxicity experiments.

Podocyte expression of membrane transporters involved in puromycin aminonucleoside-mediated injury.

Several complex mechanisms contribute to the maintenance of the intricate ramified morphology of glomerular podocytes and to interactions with neighboring cells and the underlying basement membrane. Recently, components of small molecule transporter families have been found in the podocyte membrane, but expression and function of membrane transporters in podocytes is largely unexplored. To investigate this complex field of investigation, we used two molecules which are known substrates of membrane transporters, namely Penicillin G and Puromycin Aminonucleoside (PA).

The role of basiliximab in the evolving renal transplantation immunosuppression protocol.

Basiliximab is a chimeric mouse-human monoclonal antibody directed against the alpha chain of the interleukin-2 (IL-2) receptor on activated T lymphocytes. It was shown in phase III trials to reduce the number and severity of acute rejection episodes in the first year following renal transplantation in adults and children, with a reasonable cost-benefit ratio. The drug does not increase the incidence of opportunistic infections or malignancies above baseline in patients treated with conventional calcineurin inhibitor-based immunosuppression.

Association of interferon-gamma +874A polymorphism with reduced long-term inflammatory response in haemodialysis patients.

Background: We have studied the effects of interferon (IFN)-gamma allelic variations on expression levels of pro- and anti-inflammatory cytokines and on long-term inflammatory status in haemodialysis patients.

Methods: Genotyping was performed in 123 patients for single nucleotide polymorphisms in the first intron of the IFN-gamma gene (+874 T/A). They were prospectively followed for 2 years.

Glomerular permeability defect in hypertension is dependent on renin angiotensin system activation.

Background: The aim of the present study was to compare glomerular permeability alterations associated with experimental hypertension models known to have different effects on the circulating renin-angiotensin system (RAS).

Methods: Five groups, 10 animals each, were studied. One group served as a nonhypertensive control.

Glomerular albumin permeability as an in vitro model for characterizing the mechanism of focal glomerulosclerosis and predicting post-transplant recurrence.

The putative mechanisms of proteinuria in idiopathic focal glomerulosclerosis and of its post-transplant recurrence are discussed. It is proposed that a balance between circulating factors with permeability activity on glomeruli and putative inhibitors play a key role. The characterization of inductors is currently in progress; most inhibitors appear to be apolipoproteins (mainly apoJ and apo E) but we cannot exclude other substances.

The effect of proteinase inhibitors on glomerular albumin permeability induced in vitro by serum from patients with idiopathic focal segmental glomerulosclerosis.

Background: The putative circulating factor responsible for the glomerular permeability alterations induced in vitro by serum from patients affected by focal segmental glomerulosclerosis (FSGS) remains unidentified. We have observed that a serine proteinase isolated from patient serum increases albumin permeability in isolated glomeruli. The objective of the present study was to determine the effect of various proteinase inhibitors on glomerular albumin permeability (P(alb)) in isolated glomeruli incubated with FSGS serum.

Nephrotic urine prevents increased rat glomerular albumin permeability induced by serum from the same patient with idiopathic nephrotic syndrome.

Background: The putative humoral mediator thought to be involved in the pathogenesis of idiopathic nephrotic syndrome has not yet been identified. However, components exist in normal serum that block the permeability activity of FSGS serum in vitro. The potential of FSGS serum to increase glomerular albumin permeability may result from an imbalance between permeability factors and naturally occurring inhibitors.

Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.

Background: Hyperlipemia characterizes nephrotic syndrome (NS) and contributes to the progression of the underlying nephropathy. The data in the literature support an implication of apolipoprotein E (apoE) in both hyperlipemia and focal segmental glomerulosclerosis (FSGS), a malignant condition associated with NS.

Methods: The apoE genotype was determined in 209 nephrotic patients, who were classified according to age and their response to steroids as resistant children (N = 96) and adults (43), and steroid dependent (33) and steroid responder (37) children.

Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome.

A plasma factor displaying permeability activity in vitro and possibly determining proteinuria has been hypothesized in idiopathic focal segmental glomerulosclerosis (FSGS). In vitro permeability activity (P(alb)) was determined in sera of five patients with autosomal recessive steroid-resistant nephrotic syndrome (NPHS2), an inherited condition indistinguishable from idiopathic FSGS on clinical grounds, but in which proteinuria is determined by homozygous mutations of podocin, a key component of the glomerular podocyte. All patients had presented intractable proteinuria with nephrotic syndrome; four developed renal failure and received a renal allograft.

Characterization of plasma factors that alter the permeability to albumin within isolated glomeruli.

Focal segmental glomerulosclerosis (FSGS) is responsible for intractable proteinuria and has become the leading cause of renal insufficiency in children. Protenuria in FSGS is probably due to the effect of one or more permeability plasma factors which increase the glomerular permeability to proteins. We fractioned serum from children with FSGS using two mixed chromatographic-electrophoretic approaches and have purified ten proteins among several hundreds which maintained the original permeability activity after renaturation, utilizing an isolated rat glomeruli assay.

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

Podocin mutations (NPHS2 gene) are responsible for the autosomal recessive form of steroid-resistant nephrotic syndrome. As a result of a screening for these gene alterations in a cohort of Italian patients with nonfamilial nephrotic syndrome and histologic focal segmental glomerulosclerosis (FSGS), nine patients with NPHS2 gene homozygous or composite heterozygous mutations were found. In addition to the previously described defects, two novel mutations at exon 4 were identified (frameshift, L169P); four single nucleotide polymorphisms (SNPs) and one dinucleotide repeat were also identified.

Apolipoproteins prevent glomerular albumin permeability induced in vitro by serum from patients with focal segmental glomerulosclerosis.

Glomerular albumin permeability alterations can be induced in vitro by serum from patients with end-stage renal disease caused by primary focal segmental glomerulosclerosis (FSGS). It was hypothesized that inhibitory substances may be present in normal serum, which may prevent the permeability alterations in isolated glomeruli, and the present study sought to isolate and characterize these factors. Albumin permeability was determined from the change in glomerular volume induced by applying oncotic gradients across the basement membrane of healthy isolated rat glomeruli preincubated with FSGS serum and normal serum fractionated using standard techniques.