Background: Wilson's disease is a rare autosomal recessive disorder affecting copper metabolism, which presents liver and brain dysfunction caused by abnormal copper accumulation. We report a patient who showed exacerbation of liver failure during pregnancy.
Case Presentation: A 24-year-old woman with Wilson's disease was scheduled for emergency cesarean delivery at 30 weeks of gestation. The patient exhibited severe coagulopathy and prominent body weight gain (+ 30 kg) caused by systemic edema and ascites. We decided to perform emergency cesarean delivery under general anesthesia. We used platelet concentrates, cryoprecipitate, and fibrinogen concentrate. Intraoperative hemorrhage was well controlled. On the 15th postpartum day, weight was reduced by 20 kg and liver function had improved. She and her baby were discharged without complications.
Conclusions: The appropriate continued treatment of Wilson's disease and supplementation of coagulation factors and/or platelets when indicated greatly increase the likelihood of a successful pregnancy, even in patients with liver failure exacerbation.
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http://dx.doi.org/10.1186/s40981-019-0294-2 | DOI Listing |
Orphanet J Rare Dis
January 2025
Internal Medicine IV, Department of Gastroenterology, University Hospital Heidelberg, INF 410, Heidelberg, 69120, Germany.
Background & Aim: Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in maintenance therapy in Wilson disease (WD) patients. Guidelines lack data if both variants of 24 h-UCE measurement (with or without 48 h of treatment interruption) are equally interpretable.
Methods: Eighty-four patients with a confirmed diagnosis of WD treated with chelators (50% of patients with D-Penicillamine and 50% with trientine) and with pairwise 24-h-UCE values on-therapy and off-therapy were included in the analysis.
Crit Rev Anal Chem
January 2025
Department of Oral & Maxillofacial Surgery and Diagnostic Sciences, Faculty of Dentistry, Taif University, Taif, Saudi Arabia.
Organic fluorescence and colorimetric probes have emerged as vital tools for detecting metal ions, due to their high sensitivity, selectivity, and rapid response times. Copper, an essential trace element, plays a critical role in biological systems, yet its imbalance can lead to severe disorders such as neurodegenerative diseases, cancer, and Wilson's disease. Over the past few years, advancements in probe design have unlocked innovative avenues for not only detecting Cu in environmental and biological samples but also for visualizing its distribution through fluorescence imaging.
View Article and Find Full Text PDFMedicine (Baltimore)
November 2024
First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui, China.
This study investigates levels of cuproptosis markers in Wilson disease (WD) and their role in the occurrence and development of WD. We retrospectively collected clinical data from 76 patients with Leipzig score ≥ 4 hospitalized in the First Affiliated Hospital of Anhui University of Chinese Medicine from January 2023 to September 2023. The participants were given copper chelators (sodium dimercaptosulphonate (20 mg·kg-1), 4 courses of treatment, 32 days).
View Article and Find Full Text PDFLiver Int
February 2025
Division of Gastroenterology and Hepatology, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
Background And Aims: Porto-sinusoidal vascular disorder (PSVD) is a rare vascular liver disorder characterised by specific histological findings in the absence of cirrhosis, which is poorly understood in terms of pathophysiology. While elevated hepatic copper content serves as diagnostic hallmark in Wilson disease (WD), hepatic copper content has not yet been investigated in PSVD.
Methods: Patients with a verified diagnosis of PSVD at the Medical University of Vienna and available hepatic copper content at the time of diagnosis of PSVD were retrospectively included.
Objectives: To describe the epidemiology, patient characteristics and comorbidities in patients with Wilson disease (WD) in the USA.
Design: Retrospective, population-based study.
Setting: The study used the US Komodo claims database containing records regarding medical claims for over 120 million individuals.
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