A Case of a Young Girl Suffering from Genetically Confirmed Wilson Disease with Orthotopic Liver Transplantation

Abstract A rare genetical autosomal recessive disorder called Wilson disease (WD) is characterized by excess copper being deposited in numerous major organs, mainly the liver and brain causing hepatic, neurological mental symptoms. WD caused mutations gene ATP7B. Although not always present, Kayser-Fleischer (KF) ring pathognomonic indication of deposition corneas eyes. The condition worsens with time and, if ignored, may lead to fatality, illness problems central nervous system. Preventing serious long-term damage perhaps fatal consequences be possible early diagnosis treatment. goal treatment lower level accumulated body then maintain it normal levels. We present case a 26-year-old patient, known herself also her sister genetically confirmed hepato-lenticular degeneration, who came our clinic for bilateral gonalgia mixed mechanical inflammatory character chronic low back pain. Other signs symptoms include joint bone disease, including osteoporosis development osteophytes large joints, which why patient was investigated both clinico-biologically imagistically order establish optimal specialist