Jak rozpoznawa ć i leczyć chorobę Gauchera: zarys patofizjologii, objawów klinicznych, metod diagnostycznych i leczenia

Publication date: Available online 24 July 2017 Source:Acta Haematologica Polonica Author(s): Egle Sumskiene, Maciej Machaczka Rare diseases are a diagnostic challenge for modern medicine. Gaucher disease is a rare autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. In the absence of known affected family member, frequent symptoms of Gaucher disease, such as thrombocytopenia or splenomegaly, often lead to hematological diagnostic workup. This review highlights pathophysiology, signs and symptoms, diagnostic and therapeutic principles of Gaucher disease. Difficulties in diagnosis of Gaucher disease depends mainly on its rarity, but there is also the lack of awareness and limited knowledge about this disease. Basic knowledge of Gaucher disease should be familiar to all physicians, including hematologists.
Source: Acta Haematologica Polonica - Category: Hematology Source Type: research