A. Potočnik
Oddelek za pediatrijo, Splošna bolnišnica Slovenj Gradec, Slovenj Gradec, Slovenija

L. Kitanovski
Klinični oddelek za hematologijo in onkologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana

M. Žerjav Tanšek
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

J. Brecelj
Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana in Katedra za pediatrijo, Medicinska fakulteta Ljubljana, Ljubljana, Slovenija

M. Benedik Dolničar
Klinični oddelek za hematologijo in onkologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

M. Zupančič
Služba za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

T. Battelino
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

U. Grošelj
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Slovenija

Abstract

Gaucher disease is an inherited disorder caused by defective activity of the lysosomal enzyme glucocerebrosidase. The resulting accumulation of glucocerebroside in the lysosomes of macrophages (Gaucher cells) in various tissue and organ compartments leads to multiple manifestations. The most prevalent form of Gaucher disease is the non-neuronopathic (type 1) variant, which lacks primary involvement of the central nervous system. The majority of individuals with non-neuronopathic Gaucher disease manifest during childhood or adolescence. The most frequent first signs of non-neuronopathic Gaucher disease are splenomegaly and hepatomegaly with thrombocytopaenia. The definitive diagnosis of Gaucher disease in a child is based on reduced glucocerebrosidase activity in either the peripheral leucocytes or cultured skin fibroblasts and detection of the mutations in the glucocerebrosidase gene. Early recognition and assessment of paediatric non-neuronopathic Gaucher disease enable early intervention using enzyme therapy, which can restore health in reversible manifestations and prevent the development of serious, disabling and irreversible complications.

Key words: Gaucher disease; glucocerebroside; enzyme replacement therapy.