Pathology Outlines - Wilson disease
2022年3月15日 · Trichrome stain shows focal portal fibrosis. PASD is negative for diastase resistant globules within hepatocytes. Iron stain is negative. The histologic findings are not diagnostic of a specific entity. The findings of steatosis and inflammation may be in keeping with fatty liver disease in the proper clinical setting.
Pathology Pearls: Wilson Disease - AASLD
Wilson Disease is an autosomal recessively inherited disorder characterized by a mutation in ATPB7 that encodes an ATPase-dependent, P-type copper transporter localized to chromosome 13q-14.3. This ATPase transports copper into bile for excretion.
Value of histochemical stains for copper in the diagnosis of Wilson's …
Our data show that: (1) Timm's silver stain is the most sensitive method for the demonstration of copper in all cases of WD; (2) rhodanine and orcein have minor value in the diagnosis of WD, especially in the early stages of the disease; (3) to increase …
Histopathology of Wilson Disease - IntechOpen
2020年6月12日 · Wilson Disease (WD) is a genetic metabolic disease of copper metabolism. The implicated gene is ATP7B, encodes a P-type ATPase which transports copper. The resultant defective metabolism of copper results in copper accumulation in multiple tissues especially liver, eye and central nervous system.
Biochemical diagnosis of Wilson’s disease: an update - PMC
Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations.
Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease
Wilson disease (WD) is an autosomal recessively-inherited disorder of copper metabolism and characterised by a pathological accumulation of copper. The ATP7B gene encodes for a transmembrane copper transporter essential for biliary copper excretion.
Liver Pathology of Wilson Disease - ScienceDirect
2019年1月1日 · In the precirrhotic stage of Wilson disease, cytochemically demonstrable copper is usually concentrated in periportal hepatocytes. Another helpful histochemical stain is the demonstration of copper-binding protein by orcein, but orcein becomes also positive under other cholestatic conditions.
Liver pathology in Wilson's disease: From copper overload to
The role of histochemical stains for copper is analyzed, and the Timm's method is suggested as the most sensitive one for revealing hepatic copper overload in all stage of WD. The marked variability of the histological liver changes occurring in WD is underlined simple steatosis may represent the only pathological changes, frequently associated ...
Histopathology of Wilson Disease - ScienceDirect
2019年1月1日 · Special stains for copper and copper-binding protein are indispensable, but their results are unreliable, particularly in the early stage of the disease and in cirrhosis, and, in addition, one must be aware that long-standing cholestatic conditions are also associated with copper overload.
Wilson Disease Histology - Rare Disease Advisor
Useful histochemical stains include the Timm’s silver, rhodanine, and rubeanic acid stains for copper, as well as the orcein, aldehyde fuchsin, and Victoria blue stains for copper-related proteins. These stains are neither entirely sensitive nor fully specific.