Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications. We describe a unique case of WD in a 14-year-old girl who presented with ascites, hemolytic anemia, and liver dysfunction. There was no indication of abdominal TB, and her viral, autoimmune, and hemolytic profiles were all normal. Low serum ceruloplasmin, elevated urine copper, and distinctive liver histology all supported the WD diagnosis. After starting penicillamine medication, the patient's symptoms improved, but her blood counts did not. This example emphasizes how crucial it is to rule out WD in patients with chronic liver disease, hemolytic anemia, and unexplained ascites, particularly in younger age groups.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10792352 | PMC |
http://dx.doi.org/10.7759/cureus.50724 | DOI Listing |
JA Clin Rep
January 2025
Department of Anesthesiology and Pain Medicine, Gifu University Hospital, 1-1 Yanagido, Gifu, 501-1194, Japan.
Background: Cold agglutinin disease (CAD) is an autoimmune hemolytic anemia that induces blood coagulation and hemolysis upon exposure to cold temperatures. Strict temperature control is essential to mitigate these effects, especially during surgical procedures where hypothermia is possible.
Case Presentation: A 57-year-old male, 165 cm and 72 kg, diagnosed with CAD, underwent cerebral vascular anastomosis.
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
, Department of Pediatrics, Third Xiangya Hospital, Central South University Changsha 410013 China.
To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Blood transfusion is one of the most commonly used supportive treatments for children with hematological diseases. This guideline provides guidance and recommendations for blood transfusions in children with aplastic anemia, thalassemia, autoimmune hemolytic anemia, glucose-6-phosphate dehydrogenase deficiency, acute leukemia, myelodysplastic syndromes, immune thrombocytopenic purpura, and thrombotic thrombocytopenic purpura.
View Article and Find Full Text PDFBMC Health Serv Res
January 2025
Indiana University School of Medicine, 410 W 10th St, Suite 2000A, Indianapolis, IN, 46202, USA.
Background: Individuals with Sickle Cell Disease (SCD) are a minoritized and marginalized community that have disparate health outcomes as a result of systemic racism and disease-related stigma. The purpose of this study was to determine the psychosocial risk factors for families caring for children with SCD at a pediatric SCD center through use of the Psychosocial Assessment Tool (PAT), a validated caregiver-report screener.
Methods: The PAT was administered annually during routine clinical visits and scored by the SCD Social Worker to provide tailored resources to families.
Dose Response
January 2025
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Cytokinins are plant hormones that regulate cell growth and differentiation. In particular, zeatin (ZTN) delays cellular senescence of human fibroblasts and keratinocytes and exhibits anticancer activity. Chemotherapy-induced anemia is a major side effect of anticancer therapy secondary to premature senescence of red blood cells (RBCs).
View Article and Find Full Text PDFIndian J Thorac Cardiovasc Surg
February 2025
Kasturba Medical College Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka India.
Autoimmune hemolytic anemia (AIHA) secondary to mediastinal teratoma is a very rare clinical entity. They can be primary or secondary to any infections, malignancy, etc. Yet at times, there could be a delay in the diagnosis.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!