Wilson disease is an autosomal recessive disorder of abnormal copper metabolism that is prevalent in the younger population, rarely presenting in patients older than 40 years. Clinical presentation may be variable, and diagnosis is often aided by clinical and biochemical tests. We report the case of a 72-year-old woman who presented with acute liver failure initially of unclear etiology. Our patient was initially managed for presumed drug-induced liver injury but ultimately diagnosed with Wilson disease on the basis of clinical presentation, laboratory testing, liver biopsy, quantitative hepatic copper, and abnormal genetic testing.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658015PMC
http://dx.doi.org/10.14309/crj.0000000000000024DOI Listing

Publication Analysis

Top Keywords

wilson disease
12
clinical presentation
8
rare case
4
case wilson
4
disease 72-year-old
4
72-year-old patient
4
patient wilson
4
disease autosomal
4
autosomal recessive
4
recessive disorder
4

Similar Publications

Background: People with diabetes are at increased risk of hospitalisation, morbidity, and mortality following SARS-CoV-2 infection. Long-term outcomes for people with diabetes previously hospitalised with COVID-19 are, however, unknown. This study aimed to determine the longer-term physical and mental health effects of COVID-19 in people with and without diabetes.

View Article and Find Full Text PDF

Background: Diabetes is the leading cause of kidney disease and contributes to 38% of kidney failure requiring dialysis. A gap in detection and management of type 2 diabetes (T2D) in chronic kidney disease (CKD) exists in primary care. Community pharmacists are positioned to support those not able to access kidney care through traditional pathways.

View Article and Find Full Text PDF

Background: Trimethylamine N-oxide (TMAO), a metabolite dependent on intestinal microbiota, is closely related to the emergence, progression, and prognosis of cardiovascular disease (CVD), and has received increasing attention in recent years.

Objective: The current research hotspots and future development trends in TMAO and CVD field are found through bibliometrics analysis, which provides reference for further study.

Methods: The bibliometrics tools VOSviewer and CiteSpace were used to analyze the publications from the Web of Science Core Collection (WOSCC) database.

View Article and Find Full Text PDF

Background: Cancer is a complex set of diseases, and many have decades-long lag times between possible exposure and diagnosis. Environmental exposures, such as per- and poly-fluoroalkyl substances (PFAS) and area-level risk factors (e.g.

View Article and Find Full Text PDF

Introduction: Small cell neuroendocrine carcinoma of the urinary tract (SCNEC-URO) has an inferior prognosis compared to conventional urothelial carcinoma (UC). Here, we evaluate the predictors and patterns of relapse after surgery.

Materials And Methods: We identified a definitive-surgery cohort (n = 224) from an institutional database of patients with cT1-T4NxM0 SCNEC-URO treated in 1985-2021.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!