Mirta Zekan | PubMed Health

PubMed2006

Wegener's granulomatosis of the breast.

Wegener's granulomatosis is a multisystem disorder characterized by necrotizing granulomatous inflammation and vasculitis of small vessels and can affect any organ system. The most common sites of involvement are upper and lower respiratory tracts, and kidneys. Breast involvement is unusual and very rare. We report a case of breast Wegener's granulomatosis in a 32-year-old woman who presented with pulmonary lesions and palpable masses in the left breast. Mammography showed multiple, sharply delineated nodules without microcalcifications. Ultrasonography revealed multiple hypoechoic solid lesions, some of them with anechoic areas of necrosis. Computed tomography showed multiple nodules. Histopathology of excision biopsy specimens of breast lesions revealed necrotizing granulomatous material consistent with Wegener's granulomatosis. Twenty reports of breast involvement in this rare disease were found in the literature; however, the respective ultrasonographic and computed tomography findings have not hitherto been described.

Adrenal Cortex Hormones↗

PubMed2003

[Wilson's disease].

Wilson's disease is an autosomal recessive disorder of copper metabolism. The Wilson disease protein is a copper-transporting P-type ATPase, ATP7B, the malfunction of which results in the toxic accumulation of copper in the liver and brain, causing the hepatic and/or neurological symptoms accompanying this disease. Patients present, generally between the ages of 10 and 40 years, with liver disease, neurological disease of a movement disorder type, or behavioral abnormalities, and often with a combination of these. Because Wilson's disease is effectively treated, it is extremely important for physicians to learn to recognize and diagnose the disease. The laboratory diagnosis of Wilson's disease is confirmed by decreased serum ceruloplasmin, increased urinary copper content, and elevated hepatic copper concentration. Molecular genetic analysis is complex as more than 200 unique mutations have been identified and most individuals are compound heterozygotes. The treatment of Wilson's disease must be life long. Copper chelation with penicillamine is an effective therapy in most patients. Another chelating agent which has been used successfully as the initial therapy is trientine. The search for new anticopper drugs for Wilson's disease is culminating in two excellent new drugs: zinc for maintenance therapy and ammonium tetrathiomolybdate (which is to date still an experimental drug) for initial therapy. Liver transplantation is indicated for the fulminant form and in those patients with severe disease not responding to optimal medical management. This paper reviews the pathogenesis, pathology, clinical presentation and diagnosis of the Wilson's disease as well as the most recent views on the molecular genetics and the treatment of this disease.

Hepatolenticular Degeneration↗