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Content available remote Wilson’s disease
Wilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.
Content available remote Secondary cold agglutinin disease associated with Hashimoto disease
Our case involves a 53 year old woman. Three years ago, she was investigated because of normal hemoglobin levels despite very a low erythrocyte count, which was revealed during the preoperative evaluation for ovarian cyst operation. The Direct Coombs test was found to be positive against complement and negative against IgG. Cold agglutinin titer was 1/448 (+). Due to the polyclonal IgM increase, secondary cold agglutinin disease (CAD) was considered but no factor could be found that would lead to cold agglutinin disease. During the post-operative follow-up, cold agglutinin titers increased with fluctuations in the patient. Twenty-four months after transabdominal hysterectomy and bilateral salpingooopherectomy operation, diagnosis of Hashimoto disease was made upon detection of subclinical hypothyroidism. No case of Hashimoto disease associated with CAD caused by polyclonal IgM has been reported until the present time.
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