Wilson's Disease Presenting With Pancytopenia
| Autor: | Nesrin Atci, Can Acipayam, Nilüfer İlhan, Ali Altunay |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Wilson’s disease Copper metabolism KayserFleischer rings lcsh:Medicine Disease Gastroenterology pancytopenia KayserFleischer halkası hemic and lymphatic diseases Internal medicine otorhinolaryngologic diseases Medicine Urine copper level lcsh:R5-920 business.industry lcsh:R Wilson hastalığı nutritional and metabolic diseases medicine.disease pansitopeni Pancytopenia digestive system diseases Wilson's disease Low serum ceruloplasmin Low ceruloplasmin lcsh:Medicine (General) business |
| Zdroj: | Mustafa Kemal Üniversitesi Tıp Dergisi, Vol 6, Iss 21, Pp 43-45 (2015) |
| ISSN: | 2149-3103 1308-7185 |
| DOI: | 10.17944/mkutfd.47284 |
| Popis: | Wilson’s disease is an autosomal recessive disorder of copper metabolism characterized by excessive amount of copper in liver, brain, eye and other body tissues. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration. The main clinical symptoms are usually due to hepatic and/or neurologic involvement. Pancytopenia is a rare initial symptom of Wilson Disease. An 11-year-old female presented with pancytopenia. This raised suspicion of Wilson’s disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level and raised 24- hour urine copper level. Thus a pancytopenia may be the initial manifestation of Wilson’s disease in some patients of Wilson’s disease. Key Words: Wilson’s disease, pancytopenia, Kayser-Fleischer rings |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|