Steroid resistant fsgs

Introduction: The UEMS and ERA-EDTA Alliance
Jorge B. Cannata-Andía , Oviedo, Spain
The current status of European Nephrology Education
Talia Weinstein , Tel Aviv, Israel
Recruiting high calibre fellows into Nephrology:
Challenges and Solutions
Nadine Vogelsang , Münster, Germany
Progressing training harmonisation.
The “European Certifi cate in Nephrology”
David Lappin , Galway, Ireland
Knowledge-based examination in Nephrology:
The UK experience
Jonathan G. Fox , Glasgow, United Kingdom
Mapping future progress. Panel and audience general discussion lead by Anibal Ferreira , Lisbon, Portugal and Itzchak Slotki , Jerusalem, Israel

Abatacept has been approved by the FDA for use in reducing signs and symptoms of moderately to severely active polyarticular juvenile RA (juvenile idiopathic arthritis) in pediatric patients 6 years and older.  The approval was based on data from the AWAKEN study (Abatacept Withdrawal study to Assess efficacy and safety in Key Endpoints in juvenile idiopathic arthritis Not responding to current treatment), a 3-part study including an open-label extension in children with polyarticular juvenile RA.  Overall, the 3-part trial showed that abatacept therapy yielded improvements across 3 major subtypes of juvenile RA through 1 year in patients aged 6 to 17 years whose disorder had not responded to 1 or more DMARDs, such as methotrexate or tumor necrosis factor (TNF) antagonists.  Patients had a disease duration of approximately 4 years with moderately to severely active disease at study entry, as determined by baseline counts of active joints (mean of 16) and joints with loss of motion (mean of 16); patients had elevated C-reactive protein (CRP) levels (mean of  mg/dL) and ESR (mean of 32 mm/h).

Recognition of these variants may have prognostic value in individuals with primary focal segmental glomerulosclerosis (. where no underlying cause is identified). The collapsing variant is associated with higher rate of progression to end-stage renal disease , whereas glomerular tip lesion variant has a low rate of progression to end-stage renal disease in most patients. Cellular variant shows similar clinical presentation to collapsing and glomerular tip variant but has intermediate outcomes between these two variants. However, because collapsing and glomerular tip variant show overlapping pathologic features with cellular variant, this intermediate difference in clinical outcomes may reflect a sampling bias in cases of cellular focal segmental glomerulosclerosis (. unsampled collapsing variant or glomerular tip variant). The prognostic significance of perihilar and NOS variants has not yet been determined. The NOS variant is the most common subtype. Collapsing variant is the most common type of glomerulopathy caused by HIV infection.

In 2 sisters, born of consanguineous Arab parents, with GAMOS, Ben-Omran et al. (2015) identified a homozygous truncating mutation in the WDR73 gene (Q235X; ). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Morpholino knockdown of the wdr73 gene in zebrafish resulted in brain growth and morphogenesis defects, and the Q235X mutation was unable to rescue the phenotype of wdr73-null zebrafish. The findings suggested that WDR73 has an important role in neural progenitor cell proliferation and differentiation, particularly during development.

In a review of Finnish congenital nephrosis, Tryggvason et al. (2006) noted that affected persons have massive proteinuria in utero and the nephrotic syndrome develops soon after birth. Affected children are usually born prematurely, and the weight of the placenta is almost invariably more than 25% of the weight of the child at birth. Hypoalbuminemia, hyperlipidemia, abdominal distention, and edema appear soon after birth. Electron microscopic studies of the kidney show effacement of the podocytes, a narrow slit, and absence of the slit diaphragm. The disorder is lethal; immunosuppressive therapy does not induce a remission. Successful kidney transplant is curative, although there is a risk of recurrence of nephrotic syndrome after transplantation. At least half the patients with recurrence have circulating antinephrin antibodies, which probably have a pathogenic role in the recurrence.

The . Pharmacopoeial Convention has concluded that rituximab is indicated for treatment of Waldenström’s macroglobulinemia.  Dimopolous et al (2002) reported on 27 patients with symptomatic Waldenström’s macroglobulinemia who were treated with rituximab.  Twelve patients (44 %; 95 % confidence interval [CI]:  % to %) achieved a partial response after treatment with rituximab.  Median time to response was months (range of  to months).  The median time to progression for all patients was 16 months, and with a median follow-up of months, 9 of 12 responding patients remain free of progression.  The investigators reported that approximately 25 % of patients experienced some mild form of infusion-related toxicity, usually fever and chills. 

Steroid resistant fsgs

steroid resistant fsgs

In 2 sisters, born of consanguineous Arab parents, with GAMOS, Ben-Omran et al. (2015) identified a homozygous truncating mutation in the WDR73 gene (Q235X; ). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Morpholino knockdown of the wdr73 gene in zebrafish resulted in brain growth and morphogenesis defects, and the Q235X mutation was unable to rescue the phenotype of wdr73-null zebrafish. The findings suggested that WDR73 has an important role in neural progenitor cell proliferation and differentiation, particularly during development.

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