[Gaucher disease: importance of early diagnosis and therapy]

Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuropathic (Type 1), acute neuropathic (Type 2), and chronic neuropathic (Type 3). The non-neuropathic type has the highest prevalence and also the greatest variability. The first symptoms occur before 10 years of age in more than 50% of the patients. Early onset of the clinical symptoms and signs predispose patients to severe phenotype and irreversible complications. Safe and efficient enzyme substitution therapy has been available from 1991 and applied since 1992 in Hungary. Optimal dose and early therapy are effective in stopping disease progression, leading to the regression of visceral and haematological abnormalities, preventing irreversible bone deformities, and providing a better quality of life. The authors present here three patients with Gaucher disease diagnosed in early childhood. They highlight the importance of early diagnosis and treatment before the development of severe co-morbidities or irreversible complications. They also analyse the challenges for pediatricians in establishing correct diagnosis of Gaucher disease in time.