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Berlin Brandenburg

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  • 1
    In: Kidney International, 2014
    Description: Amyloidosis results from protein misfolding, and ongoing amyloid deposition can ultimately lead to organ failure and death. Historically, this is a group of diseases with limited treatment options and frequently poor prognosis. However, there are now ‘targeted’ therapeutics emerging in the form of stabilizers of the precursor protein, inhibitors of fibrillogenesis, fibril disruptors, and blockers of protein translation, transcription, and immunotherapy. We review many of these approaches that are currently being assessed in clinical trials.
    Keywords: Amyloidosis ; Chemotherapy ; Diflunisal ; Eprodisate ; Immunotherapy ; Oligonucleotides ; Medicine;
    ISSN: 0085-2538
    E-ISSN: 15231755
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  • 2
    Language: English
    In: Kidney International, December 2017, Vol.92(6), pp.1476-1483
    Description: Renal involvement causing progressive chronic kidney disease (CKD) is present in 70% of patients with systemic Ig light-chain (AL) amyloidosis at diagnosis. Chemotherapy that substantially suppresses free light chain production is associated with improved patient survival, but its benefit in delaying the onset of renal replacement therapy among patients who present with established advanced CKD has not been studied. To evaluate this, we studied 1000 patients enrolled in the prospective UK AL amyloidosis chemotherapy study (ALchemy). Of these, 84 patients had advanced amyloid-related CKD defined by an estimated glomerular filtration rate (eGFR) under 20 ml/min/1.73 m . We determined outcomes among these 84 patients, who had a median eGFR of 10 ml/min/1.73 m , in relation to response to chemotherapy evaluated at three, six, and 12 months from baseline. Patients who achieved suppression of 90% or more in their amyloidogenic free light chain (dFLC) within three months of baseline had significantly better overall survival, prolonged time to dialysis, and prolonged time to the composite endpoint of ‘death or dialysis’ compared to those who achieved lesser degrees of clonal response at the same time point. Even when this target of greater than 90% dFLC response was achieved but was delayed beyond 3 months, it was associated with worse outcomes. Cox regression analyses confirmed that a 90% or better dFLC response within 3 months was the only significant independent predictor of all three of these outcome measures. Thus, renal survival among patients with systemic immunologic light chain amyloidosis who present with advanced CKD is strongly dependent upon the magnitude and speed with which the underlying hematologic disorder is suppressed by chemotherapy.
    Keywords: Amyloid ; Amyloidosis ; Chemotherapy ; Chronic Kidney Disease ; Medicine
    ISSN: 0085-2538
    E-ISSN: 1523-1755
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  • 3
    In: Kidney International, 2005, Vol.68(5), p.1994
    Description: Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aα chain gene. BackgroundSystemic amyloidosis occurring in early childhood is extremely rare, and is usually of AA type complicating chronic inflammatory diseases. We report the molecular basis of amyloidosis in a Korean girl who presented at 7 years of age with asymptomatic proteinuria and developed amyloid hepatomegaly and end-stage renal failure within 2 years. MethodsRenal biopsy showed enlarged glomeruli virtually replaced by amyloid, but without interstitial or vascular involvement. The histologic appearance was identical to that seen in patients with hereditary fibrinogen Aα chain Glu526Val amyloidosis, and the amyloid deposits stained specifically with antibodies to fibrinogen. Mutations were sought in the genes of the amyloidogenic proteins, transthyretin, apolipoprotein AI, lysozyme and fibrinogen Aα chain genes by polymerase chain reaction (PCR) and sequencing. ResultsA unique frameshift insertion-deletion (indel) mutation was identified in one allele of her fibrinogen Aα chain gene, which encodes a partly novel peptide and a premature stop signal, similar to the two previously reported amyloidogenic point deletions at codons 522 and 524 in this molecule. The mutation was absent in samples verified to be from her parents, indicating that it had occurred de novo. ConclusionThis is the first description of hereditary fibrinogen Aα chain amyloidosis in an Asian individual, and the distinctive renal histology offered a strong clue to the diagnosis. The disease is potentially curable by combined hepatorenal transplantation.
    Keywords: Hereditary Amyloidosis ; Childhood ; Fibrinogen Aα Chain Gene;
    ISSN: 0085-2538
    E-ISSN: 15231755
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  • 4
    Language: English
    In: Kidney International, June 1996, Vol.50(1), pp.282-289
    Description: We report the five year outcome of nine patients with dialysis-related amyloid (DRA) who underwent successful renal transplantation (RT) and six patients who remained on hemodialysis (HD). Amyloid bone cysts, a radiologic feature of DRA, and scintigraphy with 123I-labeled serum amyloid P component (SAP), a specific technique for evaluating amyloid deposits in vivo, were monitored and compared with clinical features. In all HD patients there was clinical, scintigraphic and/or radiologic evidence that DRA progressed. In contrast, eight of the RT patients experienced profound early relief of DRA symptoms following transplantation that persisted throughout follow-up, despite the reduction or withdrawal of corticosteroids. Amyloid bone cysts improved in four patients and SAP scans demonstrated regression of articular amyloid in eight out of nine cases. The modest radiographic improvement suggests that amyloid is mobilized more slowly in bone cysts than elsewhere or that cystic bone is remodeled poorly. This is the first objective evidence that DRA regresses following renal transplantation, and suggests that this may contribute to the long-term relief of DRA symptoms in transplant recipients who discontinue corticosteroids.
    Keywords: Medicine
    ISSN: 0085-2538
    E-ISSN: 1523-1755
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  • 5
    In: Kidney International, 1998, Vol.53(2), p.276
    Description: Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I. We report a family with autosomal-dominant hereditary systemic amyloidosis in three generations, presenting with renal involvement. Two members of the current generation received renal transplants for end-stage renal failure 16 and 18 years ago, and remain very well clinically despite massive visceral amyloidosis. Two other members of this generation, aged 32 and 47 years, have massive systemic amyloid but no clinical disability. Individuals known to be affected in previous generations died of renal failure in early adult life. Amyloid deposits in the proband, one of the transplanted individuals, were composed of apolipoprotein A-I (apoA-I), and among living family members there was complete concordance between amyloidosis and the presence of a novel 9 base pair in-frame deletion mutation in exon 4 of the apoA-I gene, causing a loss of residues Glu70Phe71Trp72. This predicts the acquisition of a single extra positive charge by mature apoA-I, and this variant was detected in the plasma of all carriers. All the previously reported amyloidogenic variants of apoA-I also carry an extra positive charge, indicating that this electrostatic change is likely to be relevant to the amyloidogenicity of apoA-I.
    Keywords: Hereditary Amyloidosis ; Apolipoprotein A-I ; Mutation ; Amyloidosis;
    ISSN: 0085-2538
    E-ISSN: 15231755
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  • 6
    In: Kidney International, 1996, Vol.50(1), p.282
    ISSN: 0085-2538
    E-ISSN: 1523-1755
    Source: Nature Publishing Group
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