Publications by authors named "J Kaufeld"

Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.

Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).

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Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary condition that causes the formation of cysts primarily in the kidneys. The continuous growth of multiple cysts leads to the destruction of functional parenchyma, which may progress to end-stage kidney disease. Tolvaptan is the only drug specifically approved for slowing down the progression of ADPKD.

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Article Synopsis
  • Complement-mediated kidney diseases are caused by dysregulation of the complement system, an essential part of the immune system that can lead to kidney damage if overactivated.
  • Key diseases in this category include atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy, which require thorough diagnosis including genetic testing and assessment of complement factors.
  • Recent advancements in treatments specifically targeting complement system activation show promise and differ from traditional immunosuppressive therapies, highlighting the need for interdisciplinary approaches in research and treatment.
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