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Gaucher-kór és az ajánlott új diagnosztikai algoritmus

The new diagnostic algorithm recommendations in Gaucher-disease

Ottó Csacsovszki
Hussain Alizadeh
Árpád Bátai
Gergely Kriván
Imelda Marton
Gábor Mikala
György Pfliegler
, and
Tamás Masszi

Gaucher disease (GD) is the most common lysosomal storage disorder. Due to recessively inherited mutations in GBA1 gene, the activity of acid-beta-glucosidase/glucocerebrosidase enzyme is decreased with subsequent accumulation of its substrate, glucocerebroside in the macrophages of various parenchymal organs. Characteristic symptoms are thrombocytopenia and splenomegaly. The disease is significantly underdiagnosed, therefore the confirmation of GD diagnosis is delayed by an average of 10 years after the appearance of first clinical symptoms. Until very recently an internationally accepted diagnostic algorithm was lacking. In 2022 taking into account the available experiences, a Delphi Consensus based general and simple algorithm was developed that can easily be used by all practicing general physicians and hematologists. Since effective therapy is available for GD, early diagnosis and treatment can prevent the irreversible organ damages resulting from the disease.

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