Unexplained Chronic Liver Disease and Hemolytic Anemia in a Young Girl: A Case of Wilson's Disease.
| Autor: | Wahab A; Internal Medicine, Hayatabad Medical Complex Peshawar, Peshawar, PAK., Sapkota K; Internal Medicine, Medical University of Gdańsk, Gdańsk, POL., Jayakumar K; Surgery, Medical University of Gdańsk, Gdańsk, POL., Syed ER; Medical School, Royal College of Surgeons in Ireland, Busaiteen, BHR., Amin RU; Internal Medicine, Hayatabad Medical Complex Peshawar, Peshawar, PAK., Ullah H; Medical Unit, Hayatabad Medical Complex Peshawar, Peshawar, PAK., Khan N; Internal Medicine, Khyber Medical College, Peshawar, PAK. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Dec 18; Vol. 15 (12), pp. e50724. Date of Electronic Publication: 2023 Dec 18 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.50724 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Wahab et al.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|