Pathologie (Fach) / Leber (Lektion)
Normal consumption of copper: 1-2 mg/day. Extra is excreted in bile (90%) and urine.
Genetic defect in autosomal recessive ATP7B transport protein (chromosome 13) that results in the excess copper being kept in the body. - Presents in late childhood
Role of ATP7B:1. Binds Cu2+ to apoceruloplasmin → ceruloplasmin. 2. Packages copper into vesicles for excocytosis to bile → excretion.
Buildup of copper can react with superoxide and create free radicals. Free copper circulates and deposits in other tissues.- Liver → Acute hepatitis → Cirrhosis- Basal ganglia → Movement disorders- Cerebral cortex → Dementia- Descemet's membrane → Kayser-Fleischer ring
Diagnosis:- ↓ Ceruloplasmin, ↑ Cu (also in urine)- Hepatosplenomegaly- Renal damage- Hemolytic anemia- Biopsy: Rhodanin staining
Treatment: Penicillamine, liver transplant
Diese Karteikarte wurde von estoffel erstellt.
Folgende Benutzer lernen diese Karteikarte: