Wilson’s disease

Wilson’s disease (WD) is a rare inherited copper metabolism disorder with many clinical symptoms highlighted by hepatic and cerebral features. We present the case of a 17 - year - old female patient with generalized tonic - clonic seizures and cerebellar ataxia who presented to our hospital.

4p vinatisu 29-08-2024 2 1   Download

Wilson disease (WD), an inherited disorder affecting copper metabolism, is characterized by hepatic cirrhosis and neuronal degeneration, which result from toxic levels of copper that accumulate in the liver and brain, respectively. We reported previously that the  1.3-kb promoter of the WD gene contains four metal response elements (MREs). Among the four MREs, MREa plays the most important role in the transcriptional activation of the WD promoter.

11p research12 01-06-2013 53 3   Download

ZntA, a bacterial zinc-transporting P-type ATPase, is homologous to two human ATPases mutated in Menkes and Wilson diseases. To explore the roles of the bacterial ATPase residues homologous to those involved in the humandiseases, we have introduced several pointmutations into ZntA. The mutants P401L, D628A and P634L corres-pond to the Wilson disease mutations P992L, D1267A and P1273L, respectively.

8p research12 29-04-2013 43 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Leptospirosis presenting in a woman with fulminant hepatic failure from Wilson’s disease: a case report...

3p thulanh26 09-12-2011 45 2   Download

Xếp loại các bệnh thoái hoá: Chất trắng: -Bệnh thoái hoá Myêlin: bệnh mắc phải do myêlin hoá bị rối loạn -Bệnh rối loạn tạo myêlin: sai sót bẩm sinh di truyền tạo myêlin, bảo vệ và thoái hoá myêlin Chất xám: -Sa sút trí tuệ tuổi già, thể Alzheimer -Bệnh Pick -Sa sút trí tuệ do mạch máu vỏ não( sa sút trí tuệ do nhồi máu nhiều ổ) -Bệnh Parkinson -Lyosomal storage disease Các hạch nền: -Bệnh Hungtington(di truyền, biến dị cành ngắn NST 4, tăng tổng hợp Nucleotit CAG, ) -Bệnh Wilson( Rối loạn chuyển hoá đồng) -Bệnh Fahr -Bệnh Leigh( bệnh não –tuỷ sống hoại tử...

22p truongthiuyen12 09-07-2011 761 37   Download

Hepatocellular Conditions Hepatocellular diseases that can cause jaundice include viral hepatitis, drug or environmental toxicity, alcohol, and end-stage cirrhosis from any cause (Table 43-2). Wilson's disease, once believed to occur primarily in young adults, should be considered in all adults if no other cause of jaundice is found. Autoimmune hepatitis is typically seen in young to middle-aged women but may affect men and women of any age. Alcoholic hepatitis can be differentiated from viral and toxin-related hepatitis by the pattern of the aminotransferases.

5p ongxaemnumber1 29-11-2010 70 3   Download