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Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.

Author: GroddeT, HabeckJ-O, KirchhofK, LindnerU, SchleithoffL, SchuppanD, StoelzelU

Case ReportsIn the medical field, a report that describes in detail a unique case, an unusual medical condition, or the effect of a treatment. Provides new insights and possibilities for treatment through individual patient cases.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Overview

Aceruloplasminaemia (ACP) is a rare genetic disease causing iron overload. This study reports a novel mutation and demonstrates the effectiveness and safety of long-term deferasirox treatment for 2 years, leading to iron depletion and improved anemia.
Paper Details　
Original Abstract of the Article :
Ceruloplasmin is a member of the multicopper oxidase family that plays a major role in the transport of iron in the body. Aceruloplasminaemia (ACP) is a rare disease and is clinically identified by iron overload in liver, pancreas, brain, and other organs, and by microcytic anaemia. So far, the iron...See full text at original site
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引用元：
https://doi.org/10.1055/s-0034-1383650

データ提供：米国国立医学図書館（NLM）

Aceruloplasminaemia: A Journey Through the Desert of Iron Overload

Aceruloplasminaemia (ACP) is a rare genetic disorder, leading to iron overload in various organs. This study takes us on a journey through the desert of ACP, following a family with a novel mutation and investigating the long-term effects of deferasirox therapy. The researchers report the successful use of deferasirox for two years, demonstrating its efficacy in removing iron and improving clinical outcomes.

Deferasirox: A Powerful Tool in the Desert of Aceruloplasminaemia

The study highlights the efficacy of deferasirox in treating ACP. This research provides valuable insights into the long-term management of ACP and offers a promising treatment option for patients with this rare disorder.

Navigating the Desert of Aceruloplasminaemia: A Compass for Patient Care

The study underscores the importance of early diagnosis and effective treatment for ACP. This research provides valuable insights for healthcare providers, guiding them in their efforts to manage this rare genetic disorder and improve patient outcomes.

Dr. Camel's Conclusion

This study demonstrates the efficacy and safety of deferasirox in treating ACP. The research provides valuable insights into the long-term management of ACP and offers a promising treatment option for patients with this rare disorder.

Date :
  1. Date Completed 2015-12-15
  2. Date Revised 2018-12-02
Further Info :

Pubmed ID

25089372

DOI: Digital Object Identifier

10.1055/s-0034-1383650

Related Literature

Article Analysis
・Side Effects of deferasirox
SNS
PICO Info
in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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