Recent clinical progress in Gaucher disease

Purpose of review Major clinical advances in Gaucher disease focus on detection, prediction and treatment of variant phenotypes. Recent findings The advent of efficacious enzyme therapy has emphasized the importance of early diagnosis and intervention to prevent the morbid manifestations of the disease including organomegaly, growth and pubertal retardation, and osteopenia/osteoporosis. Genotype/phenotype correlations provide some guidance for prognosis by categorical distinctions of nonneuronopathic (type 1) and neuronopathic (types 2 and 3) variants. Early detection of children genetically predisposed to severe disease are a management challenge for the pediatrician and metabolic physician. The development of specific therapeutic goals provides a framework for assessments of visceral therapeutic and palliative responses in children with type 1, and types 2 and 3, respectively. Summary The pediatrician plays a major role in these clinical and genetically based decisions.